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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: 16-70762513-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70762513&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70762513,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_018052.5",
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "NM_018052.5",
"protein_id": "NP_060522.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261776.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018052.5"
},
{
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000261776.10",
"protein_id": "ENSP00000261776.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018052.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261776.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VAC14-AS1",
"gene_hgnc_id": 48605,
"hgvs_c": "n.333+1255T>A",
"hgvs_p": null,
"transcript": "ENST00000562507.5",
"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": "pseudogene",
"feature": "ENST00000562507.5"
},
{
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*1097+27A>T",
"hgvs_p": null,
"transcript": "ENST00000568548.5",
"protein_id": "ENSP00000454650.1",
"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": "ENST00000568548.5"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.602+27A>T",
"hgvs_p": null,
"transcript": "ENST00000568886.5",
"protein_id": "ENSP00000457809.1",
"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": "ENST00000568886.5"
},
{
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000889832.1",
"protein_id": "ENSP00000559891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": null,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889832.1"
},
{
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1482+27A>T",
"hgvs_p": null,
"transcript": "ENST00000951931.1",
"protein_id": "ENSP00000621990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951931.1"
},
{
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000951934.1",
"protein_id": "ENSP00000621993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951934.1"
},
{
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000924551.1",
"protein_id": "ENSP00000594610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": null,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924551.1"
},
{
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000951933.1",
"protein_id": "ENSP00000621992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951933.1"
},
{
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000889833.1",
"protein_id": "ENSP00000559892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": null,
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"cds_length": 2316,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889833.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
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"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "ENST00000924550.1",
"protein_id": "ENSP00000594609.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000924550.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
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"transcript": "ENST00000889831.1",
"protein_id": "ENSP00000559890.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000889831.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
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"gene_symbol": "VAC14",
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"hgvs_c": "c.1371+27A>T",
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"transcript": "ENST00000951932.1",
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"feature": "ENST00000951932.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.669+27A>T",
"hgvs_p": null,
"transcript": "NM_001351157.2",
"protein_id": "NP_001338086.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 548,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001351157.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
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"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "XM_005256038.5",
"protein_id": "XP_005256095.1",
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"biotype": "protein_coding",
"feature": "XM_005256038.5"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "XM_011523225.4",
"protein_id": "XP_011521527.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011523225.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null,
"transcript": "XM_047434360.1",
"protein_id": "XP_047290316.1",
"transcript_support_level": null,
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"aa_length": 576,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "VAC14-AS1",
"gene_hgnc_id": 48605,
"hgvs_c": "n.396+1255T>A",
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"transcript": "ENST00000398177.2",
"protein_id": null,
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "VAC14",
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"hgvs_c": "n.75+27A>T",
"hgvs_p": null,
"transcript": "ENST00000563662.2",
"protein_id": "ENSP00000477536.1",
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"biotype": "non_stop_decay",
"feature": "ENST00000563662.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VAC14-AS1",
"gene_hgnc_id": 48605,
"hgvs_c": "n.151+1255T>A",
"hgvs_p": null,
"transcript": "ENST00000662383.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000662383.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VAC14-AS1",
"gene_hgnc_id": 48605,
"hgvs_c": "n.336+1255T>A",
"hgvs_p": null,
"transcript": "NR_034083.3",
"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_034083.3"
}
],
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"dbsnp": "rs16970522",
"frequency_reference_population": 0.0037730583,
"hom_count_reference_population": 186,
"allele_count_reference_population": 6083,
"gnomad_exomes_af": 0.00219119,
"gnomad_genomes_af": 0.0189385,
"gnomad_exomes_ac": 3199,
"gnomad_genomes_ac": 2884,
"gnomad_exomes_homalt": 95,
"gnomad_genomes_homalt": 91,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.777,
"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_018052.5",
"gene_symbol": "VAC14",
"hgnc_id": 25507,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1371+27A>T",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000562507.5",
"gene_symbol": "VAC14-AS1",
"hgnc_id": 48605,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.333+1255T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}