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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: 14-50723621-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50723621&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50723621,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020921.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6244A>G",
"hgvs_p": "p.Asn2082Asp",
"transcript": "NM_020921.4",
"protein_id": "NP_065972.4",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6244,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530997.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020921.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6244A>G",
"hgvs_p": "p.Asn2082Asp",
"transcript": "ENST00000530997.7",
"protein_id": "ENSP00000436092.2",
"transcript_support_level": 5,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6244,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020921.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530997.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6244A>G",
"hgvs_p": "p.Asn2082Asp",
"transcript": "ENST00000914777.1",
"protein_id": "ENSP00000584836.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6244,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914777.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6154A>G",
"hgvs_p": "p.Asn2052Asp",
"transcript": "ENST00000872465.1",
"protein_id": "ENSP00000542524.1",
"transcript_support_level": null,
"aa_start": 2052,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6154,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872465.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5938A>G",
"hgvs_p": "p.Asn1980Asp",
"transcript": "ENST00000965312.1",
"protein_id": "ENSP00000635371.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5938,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965312.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6334A>G",
"hgvs_p": "p.Asn2112Asp",
"transcript": "XM_024449622.2",
"protein_id": "XP_024305390.1",
"transcript_support_level": null,
"aa_start": 2112,
"aa_end": null,
"aa_length": 2163,
"cds_start": 6334,
"cds_end": null,
"cds_length": 6492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449622.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6244A>G",
"hgvs_p": "p.Asn2082Asp",
"transcript": "XM_047431431.1",
"protein_id": "XP_047287387.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6244,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431431.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6154A>G",
"hgvs_p": "p.Asn2052Asp",
"transcript": "XM_047431432.1",
"protein_id": "XP_047287388.1",
"transcript_support_level": null,
"aa_start": 2052,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6154,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431432.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6118A>G",
"hgvs_p": "p.Asn2040Asp",
"transcript": "XM_047431433.1",
"protein_id": "XP_047287389.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2091,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431433.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6028A>G",
"hgvs_p": "p.Asn2010Asp",
"transcript": "XM_047431434.1",
"protein_id": "XP_047287390.1",
"transcript_support_level": null,
"aa_start": 2010,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6028,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431434.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5578A>G",
"hgvs_p": "p.Asn1860Asp",
"transcript": "XM_047431438.1",
"protein_id": "XP_047287394.1",
"transcript_support_level": null,
"aa_start": 1860,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5578,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431438.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5488A>G",
"hgvs_p": "p.Asn1830Asp",
"transcript": "XM_047431439.1",
"protein_id": "XP_047287395.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431439.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4195A>G",
"hgvs_p": "p.Asn1399Asp",
"transcript": "XM_011536822.3",
"protein_id": "XP_011535124.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536822.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4105A>G",
"hgvs_p": "p.Asn1369Asp",
"transcript": "XM_047431440.1",
"protein_id": "XP_047287396.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4105,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431440.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4105A>G",
"hgvs_p": "p.Asn1369Asp",
"transcript": "XM_047431441.1",
"protein_id": "XP_047287397.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4105,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431441.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4015A>G",
"hgvs_p": "p.Asn1339Asp",
"transcript": "XM_047431442.1",
"protein_id": "XP_047287398.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431442.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3979A>G",
"hgvs_p": "p.Asn1327Asp",
"transcript": "XM_047431443.1",
"protein_id": "XP_047287399.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431443.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3889A>G",
"hgvs_p": "p.Asn1297Asp",
"transcript": "XM_047431445.1",
"protein_id": "XP_047287401.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3889,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431445.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3439A>G",
"hgvs_p": "p.Asn1147Asp",
"transcript": "XM_047431450.1",
"protein_id": "XP_047287406.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3439,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431450.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3439A>G",
"hgvs_p": "p.Asn1147Asp",
"transcript": "XM_047431453.1",
"protein_id": "XP_047287409.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3439,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431453.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3349A>G",
"hgvs_p": "p.Asn1117Asp",
"transcript": "XM_047431452.1",
"protein_id": "XP_047287408.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.*335A>G",
"hgvs_p": null,
"transcript": "ENST00000476352.5",
"protein_id": "ENSP00000432924.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1989,
"cds_start": null,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020921.4",
"gene_symbol": "NIN",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
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{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000602615.1",
"gene_symbol": "ENSG00000270062",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}