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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: 17-27882675-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27882675&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 27882675,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001076680.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001076680.3",
"protein_id": "NP_001070148.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379102.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076680.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000379102.8",
"protein_id": "ENSP00000368396.3",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001076680.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379102.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266202",
"gene_hgnc_id": null,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000582441.1",
"protein_id": "ENSP00000462879.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 159,
"cds_start": 20,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582441.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000508862.5",
"protein_id": "ENSP00000426554.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 92,
"cds_start": 20,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508862.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000460380.6",
"protein_id": "ENSP00000464378.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 86,
"cds_start": 20,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460380.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000503642.1",
"protein_id": "ENSP00000421807.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 86,
"cds_start": 20,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503642.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000379103.7",
"protein_id": "ENSP00000368397.2",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379103.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860754.1",
"protein_id": "ENSP00000530813.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860754.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860755.1",
"protein_id": "ENSP00000530814.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860755.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860756.1",
"protein_id": "ENSP00000530815.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860756.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860757.1",
"protein_id": "ENSP00000530816.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860757.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860758.1",
"protein_id": "ENSP00000530817.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860758.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860759.1",
"protein_id": "ENSP00000530818.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860759.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860760.1",
"protein_id": "ENSP00000530819.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860760.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860761.1",
"protein_id": "ENSP00000530820.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860761.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860762.1",
"protein_id": "ENSP00000530821.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860762.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860763.1",
"protein_id": "ENSP00000530822.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860763.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860764.1",
"protein_id": "ENSP00000530823.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860764.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860765.1",
"protein_id": "ENSP00000530824.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860765.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000860766.1",
"protein_id": "ENSP00000530825.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860766.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000922752.1",
"protein_id": "ENSP00000592811.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922752.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM9",
"gene_hgnc_id": 27314,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000922753.1",
"protein_id": "ENSP00000592812.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 78,
"cds_start": 20,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922753.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.716,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000582441.1",
"gene_symbol": "ENSG00000266202",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}