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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: 11-61259252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61259252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61259252,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152718.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2291G>A",
"hgvs_p": "p.Ser764Asn",
"transcript": "NM_152718.2",
"protein_id": "NP_689931.2",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 955,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335613.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152718.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2291G>A",
"hgvs_p": "p.Ser764Asn",
"transcript": "ENST00000335613.10",
"protein_id": "ENSP00000334186.5",
"transcript_support_level": 1,
"aa_start": 764,
"aa_end": null,
"aa_length": 955,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152718.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335613.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "n.*1688G>A",
"hgvs_p": null,
"transcript": "ENST00000301770.10",
"protein_id": "ENSP00000301770.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000301770.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "n.*1688G>A",
"hgvs_p": null,
"transcript": "ENST00000301770.10",
"protein_id": "ENSP00000301770.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000301770.10"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2435G>A",
"hgvs_p": "p.Ser812Asn",
"transcript": "ENST00000870661.1",
"protein_id": "ENSP00000540720.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2435,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870661.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2405G>A",
"hgvs_p": "p.Ser802Asn",
"transcript": "ENST00000870667.1",
"protein_id": "ENSP00000540726.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 993,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870667.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2315G>A",
"hgvs_p": "p.Ser772Asn",
"transcript": "ENST00000870665.1",
"protein_id": "ENSP00000540724.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 963,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870665.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2306G>A",
"hgvs_p": "p.Ser769Asn",
"transcript": "ENST00000870663.1",
"protein_id": "ENSP00000540722.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 960,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870663.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Ser759Asn",
"transcript": "ENST00000917393.1",
"protein_id": "ENSP00000587452.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 950,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917393.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Ser756Asn",
"transcript": "ENST00000870659.1",
"protein_id": "ENSP00000540718.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 947,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870659.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2204G>A",
"hgvs_p": "p.Ser735Asn",
"transcript": "ENST00000917391.1",
"protein_id": "ENSP00000587450.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 926,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917391.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Ser725Asn",
"transcript": "ENST00000870668.1",
"protein_id": "ENSP00000540727.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 916,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870668.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Ser713Asn",
"transcript": "ENST00000870666.1",
"protein_id": "ENSP00000540725.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 904,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870666.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Ser704Asn",
"transcript": "ENST00000870658.1",
"protein_id": "ENSP00000540717.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 895,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870658.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Ser669Asn",
"transcript": "ENST00000917395.1",
"protein_id": "ENSP00000587454.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 860,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917395.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000917392.1",
"protein_id": "ENSP00000587451.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 858,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917392.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"transcript": "ENST00000870664.1",
"protein_id": "ENSP00000540723.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 857,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870664.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1982G>A",
"hgvs_p": "p.Ser661Asn",
"transcript": "ENST00000870662.1",
"protein_id": "ENSP00000540721.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 852,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870662.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Ser645Asn",
"transcript": "ENST00000917396.1",
"protein_id": "ENSP00000587455.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 836,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917396.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Ser635Asn",
"transcript": "ENST00000917397.1",
"protein_id": "ENSP00000587456.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 826,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917397.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Ser623Asn",
"transcript": "ENST00000870660.1",
"protein_id": "ENSP00000540719.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 814,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870660.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "VWCE",
"gene_hgnc_id": 26487,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Ser602Asn",
"transcript": "ENST00000917394.1",
"protein_id": "ENSP00000587453.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 793,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2382,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}