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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: 7-158652283-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158652283&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158652283,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001281933.2",
"consequences": [
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "NM_017760.7",
"protein_id": "NP_060230.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356309.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017760.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000356309.8",
"protein_id": "ENSP00000348657.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017760.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356309.8"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000409339.3",
"protein_id": "ENSP00000387007.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409339.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "n.2778+10A>C",
"hgvs_p": null,
"transcript": "ENST00000467785.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000467785.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2944A>C",
"hgvs_p": "p.Thr982Pro",
"transcript": "ENST00000919076.1",
"protein_id": "ENSP00000589135.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919076.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "NM_001281933.2",
"protein_id": "NP_001268862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281933.2"
},
{
"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": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "NM_001281932.2",
"protein_id": "NP_001268861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281932.2"
},
{
"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": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000409423.5",
"protein_id": "ENSP00000386569.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409423.5"
},
{
"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": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909184.1",
"protein_id": "ENSP00000579243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909184.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909185.1",
"protein_id": "ENSP00000579244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909185.1"
},
{
"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": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919067.1",
"protein_id": "ENSP00000589126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919067.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919077.1",
"protein_id": "ENSP00000589136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919077.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2889+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909181.1",
"protein_id": "ENSP00000579240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": null,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909181.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2820+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909183.1",
"protein_id": "ENSP00000579242.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1105,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909183.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2817+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909179.1",
"protein_id": "ENSP00000579238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": null,
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"cds_length": 3315,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909179.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2781+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919069.1",
"protein_id": "ENSP00000589128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919069.1"
},
{
"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": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2781+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919075.1",
"protein_id": "ENSP00000589134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1092,
"cds_start": null,
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"cds_length": 3279,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919075.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2760+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909180.1",
"protein_id": "ENSP00000579239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909180.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2760+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919071.1",
"protein_id": "ENSP00000589130.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000919071.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2760+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919073.1",
"protein_id": "ENSP00000589132.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000919073.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2889+10A>C",
"hgvs_p": null,
"transcript": "ENST00000919072.1",
"protein_id": "ENSP00000589131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": null,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919072.1"
},
{
"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": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NCAPG2",
"gene_hgnc_id": 21904,
"hgvs_c": "c.2745+10A>C",
"hgvs_p": null,
"transcript": "ENST00000909182.1",
"protein_id": "ENSP00000579241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gnomad_exomes_homalt": 382131,
"gnomad_genomes_homalt": 42067,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.4,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001281933.2",
"gene_symbol": "NCAPG2",
"hgnc_id": 21904,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2934+10A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Khan-Khan-Katsanis syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Khan-Khan-Katsanis syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}