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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: 2-96342766-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96342766&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NCAPH",
"hgnc_id": 1112,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_015341.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 1041,
"alphamissense_prediction": null,
"alphamissense_score": 0.3811,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03972095251083374,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 741,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6030,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2226,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015341.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000240423.9",
"protein_coding": true,
"protein_id": "NP_056156.2",
"strand": true,
"transcript": "NM_015341.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 741,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6030,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2226,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000240423.9",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015341.5",
"protein_coding": true,
"protein_id": "ENSP00000240423.4",
"strand": true,
"transcript": "ENST00000240423.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 606,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1823,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435975.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405237.1",
"strand": true,
"transcript": "ENST00000435975.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000477409.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "n.331C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477409.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 740,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2223,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928327.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598386.1",
"strand": true,
"transcript": "ENST00000928327.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5997,
"cdna_start": 405,
"cds_end": null,
"cds_length": 2193,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001281710.2",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268639.1",
"strand": true,
"transcript": "NM_001281710.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 636,
"cds_end": null,
"cds_length": 2193,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000455200.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407308.1",
"strand": true,
"transcript": "ENST00000455200.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 717,
"aa_ref": "T",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": 366,
"cds_end": null,
"cds_length": 2154,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001281711.2",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Thr101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268640.1",
"strand": true,
"transcript": "NM_001281711.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 713,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2142,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928324.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598383.1",
"strand": true,
"transcript": "ENST00000928324.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2133,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894501.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564560.1",
"strand": true,
"transcript": "ENST00000894501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 702,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 409,
"cds_end": null,
"cds_length": 2109,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928323.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598382.1",
"strand": true,
"transcript": "ENST00000928323.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 699,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 389,
"cds_end": null,
"cds_length": 2100,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894500.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564559.1",
"strand": true,
"transcript": "ENST00000894500.1",
"transcript_support_level": null
},
{
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"aa_length": 689,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 421,
"cds_end": null,
"cds_length": 2070,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928322.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598381.1",
"strand": true,
"transcript": "ENST00000928322.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 398,
"cds_end": null,
"cds_length": 2061,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928321.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Thr101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598380.1",
"strand": true,
"transcript": "ENST00000928321.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1572,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928326.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598385.1",
"strand": true,
"transcript": "ENST00000928326.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2178,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005263908.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263965.1",
"strand": true,
"transcript": "XM_005263908.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2133,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006712388.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712451.1",
"strand": true,
"transcript": "XM_006712388.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 699,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5904,
"cdna_start": 405,
"cds_end": null,
"cds_length": 2100,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443836.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299792.1",
"strand": true,
"transcript": "XM_047443836.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": 366,
"cds_end": null,
"cds_length": 2061,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443837.1",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Thr101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299793.1",
"strand": true,
"transcript": "XM_047443837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001281712.2",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.-35C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268641.1",
"strand": true,
"transcript": "NM_001281712.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000427946.5",
"gene_hgnc_id": 1112,
"gene_symbol": "NCAPH",
"hgvs_c": "c.-35C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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}