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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: 2-240007349-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240007349&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240007349,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000252711.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "NM_004544.4",
"protein_id": "NP_004535.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 355,
"cds_start": 771,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000252711.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000252711.7",
"protein_id": "ENSP00000252711.2",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 355,
"cds_start": 771,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_004544.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Gln287Gln",
"transcript": "ENST00000307300.8",
"protein_id": "ENSP00000302321.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 429,
"cds_start": 861,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Asn190Ser",
"transcript": "ENST00000443626.5",
"protein_id": "ENSP00000411527.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 243,
"cds_start": 569,
"cds_end": null,
"cds_length": 734,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000677567.1",
"protein_id": "ENSP00000503217.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 393,
"cds_start": 771,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000404554.5",
"protein_id": "ENSP00000385697.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 390,
"cds_start": 771,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000678289.1",
"protein_id": "ENSP00000504063.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 388,
"cds_start": 771,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "NM_001322019.2",
"protein_id": "NP_001308948.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 375,
"cds_start": 771,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000448880.6",
"protein_id": "ENSP00000408224.2",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 375,
"cds_start": 771,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.819A>G",
"hgvs_p": "p.Gln273Gln",
"transcript": "ENST00000620965.5",
"protein_id": "ENSP00000480897.2",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 371,
"cds_start": 819,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "NM_001410987.1",
"protein_id": "NP_001397916.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 362,
"cds_start": 771,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000444548.6",
"protein_id": "ENSP00000403080.2",
"transcript_support_level": 3,
"aa_start": 257,
"aa_end": null,
"aa_length": 362,
"cds_start": 771,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000676491.1",
"protein_id": "ENSP00000504528.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 361,
"cds_start": 771,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000676782.1",
"protein_id": "ENSP00000504717.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 358,
"cds_start": 771,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.768A>G",
"hgvs_p": "p.Gln256Gln",
"transcript": "ENST00000678455.1",
"protein_id": "ENSP00000504395.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 354,
"cds_start": 768,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000678737.1",
"protein_id": "ENSP00000503770.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 345,
"cds_start": 771,
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"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000677407.1",
"protein_id": "ENSP00000503141.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 344,
"cds_start": 771,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000677263.1",
"protein_id": "ENSP00000503790.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 339,
"cds_start": 771,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.669A>G",
"hgvs_p": "p.Gln223Gln",
"transcript": "ENST00000678914.1",
"protein_id": "ENSP00000504515.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 321,
"cds_start": 669,
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"cdna_start": 757,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "NM_001322020.2",
"protein_id": "NP_001308949.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 317,
"cds_start": 771,
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"cdna_start": 812,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln",
"transcript": "ENST00000679158.1",
"protein_id": "ENSP00000503837.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 317,
"cds_start": 771,
"cds_end": null,
"cds_length": 954,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.66A>G",
"hgvs_p": "p.Gln22Gln",
"transcript": "ENST00000419408.5",
"protein_id": "ENSP00000408055.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 129,
"cds_start": 66,
"cds_end": null,
"cds_length": 390,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"gene_symbol": "NDUFA10",
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"dbsnp": "rs13848",
"frequency_reference_population": 0.39996234,
"hom_count_reference_population": 130223,
"allele_count_reference_population": 633034,
"gnomad_exomes_af": 0.40136,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.00010091991134686396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.0981,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.205,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000252711.7",
"gene_symbol": "NDUFA10",
"hgnc_id": 7684,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Gln257Gln"
}
],
"clinvar_disease": " nuclear type 1, nuclear type 22,Leigh syndrome,Mitochondrial complex I deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not specified|not provided|Mitochondrial complex I deficiency, nuclear type 22",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}