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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: 14-50743453-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50743453&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50743453,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000530997.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "NM_020921.4",
"protein_id": "NP_065972.4",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2133,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "ENST00000530997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "ENST00000530997.7",
"protein_id": "ENSP00000436092.2",
"transcript_support_level": 5,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2133,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "NM_020921.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "ENST00000382041.7",
"protein_id": "ENSP00000371472.3",
"transcript_support_level": 1,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2090,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 5455,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Ala1042Glu",
"transcript": "ENST00000382043.8",
"protein_id": "ENSP00000371474.4",
"transcript_support_level": 1,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3125,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3011C>A",
"hgvs_p": "p.Ala1004Glu",
"transcript": "ENST00000485005.2",
"protein_id": "ENSP00000431485.2",
"transcript_support_level": 1,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "NM_182946.2",
"protein_id": "NP_891991.2",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2090,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "NM_182944.3",
"protein_id": "NP_891989.3",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "ENST00000453196.6",
"protein_id": "ENSP00000412391.1",
"transcript_support_level": 5,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5528,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "ENST00000476352.5",
"protein_id": "ENSP00000432924.1",
"transcript_support_level": 5,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5264,
"cds_end": null,
"cds_length": 5970,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 10225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3734C>A",
"hgvs_p": "p.Ala1245Glu",
"transcript": "ENST00000389869.7",
"protein_id": "ENSP00000374519.3",
"transcript_support_level": 5,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1580,
"cds_start": 3734,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Ala1042Glu",
"transcript": "NM_016350.5",
"protein_id": "NP_057434.4",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3125,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Ala1042Glu",
"transcript": "ENST00000324330.13",
"protein_id": "ENSP00000324210.10",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3125,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Ala1001Glu",
"transcript": "ENST00000706706.1",
"protein_id": "ENSP00000516509.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 8089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5354C>A",
"hgvs_p": "p.Ala1785Glu",
"transcript": "XM_024449622.2",
"protein_id": "XP_024305390.1",
"transcript_support_level": null,
"aa_start": 1785,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5354,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 5586,
"cdna_end": null,
"cdna_length": 10424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "XM_047431431.1",
"protein_id": "XP_047287387.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2133,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5174C>A",
"hgvs_p": "p.Ala1725Glu",
"transcript": "XM_047431432.1",
"protein_id": "XP_047287388.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2103,
"cds_start": 5174,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 5406,
"cdna_end": null,
"cdna_length": 10244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5138C>A",
"hgvs_p": "p.Ala1713Glu",
"transcript": "XM_047431433.1",
"protein_id": "XP_047287389.1",
"transcript_support_level": null,
"aa_start": 1713,
"aa_end": null,
"aa_length": 2091,
"cds_start": 5138,
"cds_end": null,
"cds_length": 6276,
"cdna_start": 5370,
"cdna_end": null,
"cdna_length": 10208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5354C>A",
"hgvs_p": "p.Ala1785Glu",
"transcript": "XM_011536819.4",
"protein_id": "XP_011535121.1",
"transcript_support_level": null,
"aa_start": 1785,
"aa_end": null,
"aa_length": 2076,
"cds_start": 5354,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 5586,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5048C>A",
"hgvs_p": "p.Ala1683Glu",
"transcript": "XM_047431434.1",
"protein_id": "XP_047287390.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 2061,
"cds_start": 5048,
"cds_end": null,
"cds_length": 6186,
"cdna_start": 5280,
"cdna_end": null,
"cdna_length": 10118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "XM_047431435.1",
"protein_id": "XP_047287391.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5264,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5354C>A",
"hgvs_p": "p.Ala1785Glu",
"transcript": "XM_047431436.1",
"protein_id": "XP_047287392.1",
"transcript_support_level": null,
"aa_start": 1785,
"aa_end": null,
"aa_length": 2019,
"cds_start": 5354,
"cds_end": null,
"cds_length": 6060,
"cdna_start": 5586,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5264C>A",
"hgvs_p": "p.Ala1755Glu",
"transcript": "XM_047431437.1",
"protein_id": "XP_047287393.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5264,
"cds_end": null,
"cds_length": 5970,
"cdna_start": 5496,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
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},
{
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},
{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000530997.7",
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"effects": [
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}