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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: 16-70687971-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70687971&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70687971,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018052.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2306G>C",
"hgvs_p": "p.Arg769Pro",
"transcript": "NM_018052.5",
"protein_id": "NP_060522.3",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 782,
"cds_start": 2306,
"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": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2306G>C",
"hgvs_p": "p.Arg769Pro",
"transcript": "ENST00000261776.10",
"protein_id": "ENSP00000261776.5",
"transcript_support_level": 1,
"aa_start": 769,
"aa_end": null,
"aa_length": 782,
"cds_start": 2306,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*2032G>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*931G>C",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*2032G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*931G>C",
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2396G>C",
"hgvs_p": "p.Arg799Pro",
"transcript": "ENST00000889832.1",
"protein_id": "ENSP00000559891.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 812,
"cds_start": 2396,
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2333G>C",
"hgvs_p": "p.Arg778Pro",
"transcript": "ENST00000951931.1",
"protein_id": "ENSP00000621990.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 791,
"cds_start": 2333,
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Arg772Pro",
"transcript": "ENST00000951934.1",
"protein_id": "ENSP00000621993.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 785,
"cds_start": 2315,
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2303G>C",
"hgvs_p": "p.Arg768Pro",
"transcript": "ENST00000924551.1",
"protein_id": "ENSP00000594610.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 781,
"cds_start": 2303,
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2300G>C",
"hgvs_p": "p.Arg767Pro",
"transcript": "ENST00000951933.1",
"protein_id": "ENSP00000621992.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 780,
"cds_start": 2300,
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2273G>C",
"hgvs_p": "p.Arg758Pro",
"transcript": "ENST00000889833.1",
"protein_id": "ENSP00000559892.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 771,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889833.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2225G>C",
"hgvs_p": "p.Arg742Pro",
"transcript": "ENST00000924550.1",
"protein_id": "ENSP00000594609.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 755,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924550.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2222G>C",
"hgvs_p": "p.Arg741Pro",
"transcript": "ENST00000889831.1",
"protein_id": "ENSP00000559890.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 754,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889831.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1991G>C",
"hgvs_p": "p.Arg664Pro",
"transcript": "ENST00000951932.1",
"protein_id": "ENSP00000621991.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 677,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951932.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"transcript": "NM_001351157.2",
"protein_id": "NP_001338086.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 548,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351157.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000536184.6",
"protein_id": "ENSP00000439284.2",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 214,
"cds_start": 602,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536184.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*118G>C",
"hgvs_p": null,
"transcript": "ENST00000567648.1",
"protein_id": "ENSP00000463485.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": null,
"cds_end": null,
"cds_length": 51,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*3892G>C",
"hgvs_p": null,
"transcript": "XM_005256038.5",
"protein_id": "XP_005256095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.3079G>C",
"hgvs_p": null,
"transcript": "ENST00000571759.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000571759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*69G>C",
"hgvs_p": null,
"transcript": "ENST00000564512.1",
"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": "ENST00000564512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*72G>C",
"hgvs_p": null,
"transcript": "ENST00000566416.1",
"protein_id": "ENSP00000455731.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566416.1"
}
],
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"dbsnp": "rs376731871",
"frequency_reference_population": 0.0000013884357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138844,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48520174622535706,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.4824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.703,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018052.5",
"gene_symbol": "VAC14",
"hgnc_id": 25507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2306G>C",
"hgvs_p": "p.Arg769Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}