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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: 16-27362859-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27362859&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27362859,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000418.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000418.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_000418.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395762.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543915.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1528T>C",
"hgvs_p": "p.Ser510Pro",
"transcript": "ENST00000912076.1",
"protein_id": "ENSP00000582135.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 832,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912076.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257406.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856359.1",
"protein_id": "ENSP00000526418.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856359.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856360.1",
"protein_id": "ENSP00000526419.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856360.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856361.1",
"protein_id": "ENSP00000526420.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856361.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856362.1",
"protein_id": "ENSP00000526421.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856362.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856363.1",
"protein_id": "ENSP00000526422.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856363.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856364.1",
"protein_id": "ENSP00000526423.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856364.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856365.1",
"protein_id": "ENSP00000526424.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856365.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856366.1",
"protein_id": "ENSP00000526425.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856366.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856367.1",
"protein_id": "ENSP00000526426.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856367.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856368.1",
"protein_id": "ENSP00000526427.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856368.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856369.1",
"protein_id": "ENSP00000526428.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856369.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856370.1",
"protein_id": "ENSP00000526429.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856370.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856372.1",
"protein_id": "ENSP00000526431.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856372.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856373.1",
"protein_id": "ENSP00000526432.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856373.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856374.1",
"protein_id": "ENSP00000526433.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856374.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856375.1",
"protein_id": "ENSP00000526434.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856375.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Ser503Pro",
"transcript": "ENST00000856376.1",
"protein_id": "ENSP00000526435.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 825,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2478,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "Unknown",
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],
"clinvar_disease": "RECLASSIFIED - MYOC POLYMORPHISM",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "RECLASSIFIED - MYOC POLYMORPHISM",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}