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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: 8-89946237-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89946237&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 89946237,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002485.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "NM_002485.5",
"protein_id": "NP_002476.2",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 754,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "ENST00000265433.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002485.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000265433.8",
"protein_id": "ENSP00000265433.4",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 754,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "NM_002485.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265433.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000697309.1",
"protein_id": "ENSP00000513244.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 782,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697309.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000697293.1",
"protein_id": "ENSP00000513230.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 771,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 7028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697293.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000697292.1",
"protein_id": "ENSP00000513229.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 754,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697292.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000697310.1",
"protein_id": "ENSP00000513245.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 754,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697310.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000969898.1",
"protein_id": "ENSP00000639957.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 754,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969898.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Glu656Gly",
"transcript": "ENST00000969900.1",
"protein_id": "ENSP00000639959.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 752,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969900.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Glu652Gly",
"transcript": "ENST00000915948.1",
"protein_id": "ENSP00000586007.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 748,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915948.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Glu635Gly",
"transcript": "ENST00000697308.1",
"protein_id": "ENSP00000513243.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 731,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697308.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000969899.1",
"protein_id": "ENSP00000639958.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 716,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969899.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "NM_001024688.3",
"protein_id": "NP_001019859.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024688.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "NM_001440379.1",
"protein_id": "NP_001427308.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440379.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "NM_001440380.1",
"protein_id": "NP_001427309.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440380.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "ENST00000409330.5",
"protein_id": "ENSP00000386924.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409330.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "ENST00000517337.2",
"protein_id": "ENSP00000429971.2",
"transcript_support_level": 4,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 6895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517337.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "ENST00000523444.2",
"protein_id": "ENSP00000428252.2",
"transcript_support_level": 4,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523444.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "ENST00000697298.1",
"protein_id": "ENSP00000513234.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697298.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Glu576Gly",
"transcript": "ENST00000697299.1",
"protein_id": "ENSP00000513235.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 672,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 6819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697299.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Glu554Gly",
"transcript": "ENST00000697304.1",
"protein_id": "ENSP00000513240.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697304.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.Glu365Gly",
"transcript": "XM_047421795.1",
"protein_id": "XP_047277751.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 461,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421795.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1846-2871A>G",
"hgvs_p": null,
"transcript": "ENST00000697307.1",
"protein_id": "ENSP00000513242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": null,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.8432700634002686,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.516,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.681,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_002485.5",
"gene_symbol": "NBN",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly"
}
],
"clinvar_disease": " normal intelligence and immunodeficiency,Aplastic anemia,Hereditary cancer-predisposing syndrome,Microcephaly,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Aplastic anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}