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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: 11-94437206-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94437206&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 94437206,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001440460.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "NM_005591.4",
"protein_id": "NP_005582.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323929.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005591.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "ENST00000323929.8",
"protein_id": "ENSP00000325863.4",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005591.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323929.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1813C>G",
"hgvs_p": "p.Arg605Gly",
"transcript": "ENST00000323977.7",
"protein_id": "ENSP00000326094.3",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 680,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323977.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "NM_001440460.1",
"protein_id": "NP_001427389.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 725,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "NM_001440461.1",
"protein_id": "NP_001427390.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 725,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440461.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "ENST00000936196.1",
"protein_id": "ENSP00000606255.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 725,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936196.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1906C>G",
"hgvs_p": "p.Arg636Gly",
"transcript": "ENST00000407439.7",
"protein_id": "ENSP00000385614.3",
"transcript_support_level": 2,
"aa_start": 636,
"aa_end": null,
"aa_length": 711,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407439.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "NM_001440462.1",
"protein_id": "NP_001427391.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "NM_001440463.1",
"protein_id": "NP_001427392.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "ENST00000856310.1",
"protein_id": "ENSP00000526369.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856310.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "ENST00000936197.1",
"protein_id": "ENSP00000606256.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 708,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936197.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001330347.2",
"protein_id": "NP_001317276.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330347.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001440464.1",
"protein_id": "NP_001427393.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440464.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "NM_001440465.1",
"protein_id": "NP_001427394.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440465.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000393241.8",
"protein_id": "ENSP00000376933.4",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393241.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000856311.1",
"protein_id": "ENSP00000526370.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856311.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000856313.1",
"protein_id": "ENSP00000526372.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856313.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1894C>G",
"hgvs_p": "p.Arg632Gly",
"transcript": "ENST00000944920.1",
"protein_id": "ENSP00000614979.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944920.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1897C>G",
"hgvs_p": "p.Arg633Gly",
"transcript": "ENST00000856316.1",
"protein_id": "ENSP00000526375.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 705,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856316.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1813C>G",
"hgvs_p": "p.Arg605Gly",
"transcript": "NM_001440466.1",
"protein_id": "NP_001427395.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 697,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440466.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1852C>G",
"hgvs_p": "p.Arg618Gly",
"transcript": "ENST00000944921.1",
"protein_id": "ENSP00000614980.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 693,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944921.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "ENST00000936195.1",
"protein_id": "ENSP00000606254.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 690,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
"message": null
}