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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: 16-19733702-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19733702&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IQCK",
"hgnc_id": 28556,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_153208.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 91,
"alphamissense_prediction": null,
"alphamissense_score": 0.0979,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "16",
"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": 0.027747899293899536,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 287,
"cds_end": null,
"cds_length": 864,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153208.3",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695302.1",
"protein_coding": true,
"protein_id": "NP_694940.1",
"strand": true,
"transcript": "NM_153208.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 287,
"cds_end": null,
"cds_length": 864,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000695302.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153208.3",
"protein_coding": true,
"protein_id": "ENSP00000511791.1",
"strand": true,
"transcript": "ENST00000695302.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 950,
"cds_end": null,
"cds_length": 864,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000320394.10",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324901.6",
"strand": true,
"transcript": "ENST00000320394.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000308214.13",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000309261.9",
"strand": true,
"transcript": "ENST00000308214.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561839.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458010.1",
"strand": true,
"transcript": "ENST00000561839.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 287,
"cds_end": null,
"cds_length": 864,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394804.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381733.1",
"strand": true,
"transcript": "NM_001394804.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 278,
"cds_end": null,
"cds_length": 849,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564186.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458669.1",
"strand": true,
"transcript": "ENST00000564186.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 261,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 287,
"cds_end": null,
"cds_length": 786,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394806.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381735.1",
"strand": true,
"transcript": "NM_001394806.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 261,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 287,
"cds_end": null,
"cds_length": 786,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892921.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562980.1",
"strand": true,
"transcript": "ENST00000892921.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 239,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 287,
"cds_end": null,
"cds_length": 720,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001305122.3",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001292051.1",
"strand": true,
"transcript": "NM_001305122.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 215,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 275,
"cds_end": null,
"cds_length": 648,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952228.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622287.1",
"strand": true,
"transcript": "ENST00000952228.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 287,
"cds_end": null,
"cds_length": 621,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892922.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562981.1",
"strand": true,
"transcript": "ENST00000892922.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": null,
"cds_end": null,
"cds_length": 600,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001305121.3",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.-14C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001292050.1",
"strand": true,
"transcript": "NM_001305121.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": null,
"cds_end": null,
"cds_length": 600,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394805.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.-14C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381734.1",
"strand": true,
"transcript": "NM_001394805.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": null,
"cds_end": null,
"cds_length": 636,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918412.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "c.246+3208C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588471.1",
"strand": true,
"transcript": "ENST00000918412.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561935.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.230C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457506.1",
"strand": true,
"transcript": "ENST00000561935.5",
"transcript_support_level": 5
},
{
"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": 691,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564515.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.260C>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": "ENST00000564515.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564955.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456448.1",
"strand": true,
"transcript": "ENST00000564955.5",
"transcript_support_level": 2
},
{
"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": 473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000566312.1",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.142C>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": "ENST00000566312.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000568126.5",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457519.1",
"strand": true,
"transcript": "ENST00000568126.5",
"transcript_support_level": 2
},
{
"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": 1915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000568300.6",
"gene_hgnc_id": 28556,
"gene_symbol": "IQCK",
"hgvs_c": "n.275C>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": "ENST00000568300.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
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{
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],
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"pathogenicity_classification_combined": "Uncertain significance",
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}
]
}