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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: 19-12676107-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12676107&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12676107,
"ref": "T",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_013406.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Thr308Thr",
"transcript": "NM_001930.4",
"protein_id": "NP_001921.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 369,
"cds_start": 924,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000210060.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001930.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Thr308Thr",
"transcript": "ENST00000210060.12",
"protein_id": "ENSP00000210060.6",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 369,
"cds_start": 924,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001930.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210060.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.785-2A>G",
"hgvs_p": null,
"transcript": "ENST00000351660.9",
"protein_id": "ENSP00000221303.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351660.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "n.820A>G",
"hgvs_p": null,
"transcript": "ENST00000601537.5",
"protein_id": "ENSP00000472122.1",
"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": "ENST00000601537.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285589",
"gene_hgnc_id": null,
"hgvs_c": "n.*469A>G",
"hgvs_p": null,
"transcript": "ENST00000648033.1",
"protein_id": "ENSP00000498000.1",
"transcript_support_level": null,
"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": "ENST00000648033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285589",
"gene_hgnc_id": null,
"hgvs_c": "n.*469A>G",
"hgvs_p": null,
"transcript": "ENST00000648033.1",
"protein_id": "ENSP00000498000.1",
"transcript_support_level": null,
"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": "ENST00000648033.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Thr308Thr",
"transcript": "ENST00000949481.1",
"protein_id": "ENSP00000619540.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 369,
"cds_start": 924,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949481.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.915A>G",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000917713.1",
"protein_id": "ENSP00000587772.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 366,
"cds_start": 915,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917713.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Thr301Thr",
"transcript": "ENST00000862636.1",
"protein_id": "ENSP00000532695.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 362,
"cds_start": 903,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862636.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Thr308Thr",
"transcript": "ENST00000917717.1",
"protein_id": "ENSP00000587776.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 350,
"cds_start": 924,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917717.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "ENST00000862639.1",
"protein_id": "ENSP00000532698.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 340,
"cds_start": 837,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862639.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.813A>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000949482.1",
"protein_id": "ENSP00000619541.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 332,
"cds_start": 813,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949482.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.798A>G",
"hgvs_p": "p.Thr266Thr",
"transcript": "NM_001206974.2",
"protein_id": "NP_001193903.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 327,
"cds_start": 798,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206974.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.798A>G",
"hgvs_p": "p.Thr266Thr",
"transcript": "ENST00000594424.5",
"protein_id": "ENSP00000471886.1",
"transcript_support_level": 3,
"aa_start": 266,
"aa_end": null,
"aa_length": 327,
"cds_start": 798,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594424.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.714A>G",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000862637.1",
"protein_id": "ENSP00000532696.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 299,
"cds_start": 714,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862637.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.627A>G",
"hgvs_p": "p.Thr209Thr",
"transcript": "ENST00000917716.1",
"protein_id": "ENSP00000587775.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 270,
"cds_start": 627,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917716.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.453A>G",
"hgvs_p": "p.Thr151Thr",
"transcript": "ENST00000862640.1",
"protein_id": "ENSP00000532699.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 212,
"cds_start": 453,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862640.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.375A>G",
"hgvs_p": "p.Thr125Thr",
"transcript": "NM_001369693.1",
"protein_id": "NP_001356622.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 186,
"cds_start": 375,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369693.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.243A>G",
"hgvs_p": "p.Thr81Thr",
"transcript": "ENST00000917715.1",
"protein_id": "ENSP00000587774.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 142,
"cds_start": 243,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.889-29A>G",
"hgvs_p": null,
"transcript": "NM_001369691.1",
"protein_id": "NP_001356620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.785-2A>G",
"hgvs_p": null,
"transcript": "NM_013406.3",
"protein_id": "NP_037538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013406.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DHPS",
"gene_hgnc_id": 2869,
"hgvs_c": "c.889-231A>G",
"hgvs_p": null,
"transcript": "ENST00000862638.1",
"protein_id": "ENSP00000532697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862638.1"
},
{
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{
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{
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{
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{
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],
"gene_symbol": "DHPS",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.521,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013406.3",
"gene_symbol": "DHPS",
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"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
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{
"score": -6,
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"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000648033.1",
"gene_symbol": "ENSG00000285589",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*469A>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}