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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: 16-19718317-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19718317&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19718317,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153208.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "NM_153208.3",
"protein_id": "NP_694940.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 11,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695302.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153208.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000695302.1",
"protein_id": "ENSP00000511791.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 11,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153208.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695302.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000320394.10",
"protein_id": "ENSP00000324901.6",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 11,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320394.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.11C>G",
"hgvs_p": null,
"transcript": "ENST00000308214.13",
"protein_id": "ENSP00000309261.9",
"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": "nonsense_mediated_decay",
"feature": "ENST00000308214.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.2C>G",
"hgvs_p": null,
"transcript": "ENST00000561839.5",
"protein_id": "ENSP00000458010.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000561839.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "NM_001394804.1",
"protein_id": "NP_001381733.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 11,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394804.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000564186.5",
"protein_id": "ENSP00000458669.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 282,
"cds_start": 11,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564186.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "NM_001394806.1",
"protein_id": "NP_001381735.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 261,
"cds_start": 11,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394806.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000892921.1",
"protein_id": "ENSP00000562980.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 261,
"cds_start": 11,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892921.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "NM_001305122.3",
"protein_id": "NP_001292051.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 239,
"cds_start": 11,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305122.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000952228.1",
"protein_id": "ENSP00000622287.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 215,
"cds_start": 11,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952228.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000918412.1",
"protein_id": "ENSP00000588471.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 211,
"cds_start": 11,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918412.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg",
"transcript": "ENST00000892922.1",
"protein_id": "ENSP00000562981.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 206,
"cds_start": 11,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.-189C>G",
"hgvs_p": null,
"transcript": "NM_001305121.3",
"protein_id": "NP_001292050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305121.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "c.-549C>G",
"hgvs_p": null,
"transcript": "NM_001394805.1",
"protein_id": "NP_001381734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394805.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.-3+82G>C",
"hgvs_p": null,
"transcript": "ENST00000918604.1",
"protein_id": "ENSP00000588663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.20C>G",
"hgvs_p": null,
"transcript": "ENST00000564515.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000564515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.11C>G",
"hgvs_p": null,
"transcript": "ENST00000564955.5",
"protein_id": "ENSP00000456448.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000564955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.11C>G",
"hgvs_p": null,
"transcript": "ENST00000568126.5",
"protein_id": "ENSP00000457519.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000568126.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.35C>G",
"hgvs_p": null,
"transcript": "ENST00000568300.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000568300.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.47C>G",
"hgvs_p": null,
"transcript": "NR_130967.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_130967.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCK",
"gene_hgnc_id": 28556,
"hgvs_c": "n.47C>G",
"hgvs_p": null,
"transcript": "NR_130968.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_130968.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"cds_length": null,
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"feature": "ENST00000566312.1"
}
],
"gene_symbol": "IQCK",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.1373332440853119,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.711,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153208.3",
"gene_symbol": "IQCK",
"hgnc_id": 28556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Pro4Arg"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000918604.1",
"gene_symbol": "KNOP1",
"hgnc_id": 34404,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-3+82G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}