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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: 19-9160250-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9160250&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9160250,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020933.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "NM_020933.5",
"protein_id": "NP_065984.3",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000247956.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020933.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "ENST00000247956.11",
"protein_id": "ENSP00000247956.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020933.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247956.11"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000360385.7",
"protein_id": "ENSP00000353554.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360385.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.*430C>G",
"hgvs_p": null,
"transcript": "ENST00000591278.5",
"protein_id": "ENSP00000465780.1",
"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": "ENST00000591278.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.*430C>G",
"hgvs_p": null,
"transcript": "ENST00000591278.5",
"protein_id": "ENSP00000465780.1",
"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": "ENST00000591278.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "ENST00000891823.1",
"protein_id": "ENSP00000561882.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891823.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "ENST00000933873.1",
"protein_id": "ENSP00000603932.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933873.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "ENST00000949134.1",
"protein_id": "ENSP00000619193.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949134.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly",
"transcript": "ENST00000949136.1",
"protein_id": "ENSP00000619195.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 595,
"cds_start": 605,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949136.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.593C>G",
"hgvs_p": "p.Ala198Gly",
"transcript": "ENST00000891822.1",
"protein_id": "ENSP00000561881.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 591,
"cds_start": 593,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891822.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_001190791.2",
"protein_id": "NP_001177720.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190791.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000933872.1",
"protein_id": "ENSP00000603931.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933872.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000933874.1",
"protein_id": "ENSP00000603933.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933874.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000933875.1",
"protein_id": "ENSP00000603934.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933875.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000933876.1",
"protein_id": "ENSP00000603935.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 563,
"cds_start": 509,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933876.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.497C>G",
"hgvs_p": "p.Ala166Gly",
"transcript": "ENST00000949135.1",
"protein_id": "ENSP00000619194.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 559,
"cds_start": 497,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949135.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Ala85Gly",
"transcript": "XM_047439139.1",
"protein_id": "XP_047295095.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 478,
"cds_start": 254,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "c.87+1342C>G",
"hgvs_p": null,
"transcript": "ENST00000591508.1",
"protein_id": "ENSP00000468213.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.1129C>G",
"hgvs_p": null,
"transcript": "ENST00000590152.1",
"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": "ENST00000590152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.1039C>G",
"hgvs_p": null,
"transcript": "NR_102435.2",
"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_102435.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.797C>G",
"hgvs_p": null,
"transcript": "XR_007066921.1",
"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": "XR_007066921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"hgvs_c": "n.893C>G",
"hgvs_p": null,
"transcript": "XR_430146.5",
"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": "XR_430146.5"
}
],
"gene_symbol": "ZNF317",
"gene_hgnc_id": 13507,
"dbsnp": "rs529554441",
"frequency_reference_population": 0.000005575711,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547238,
"gnomad_genomes_af": 0.0000065678,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04670357704162598,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020933.5",
"gene_symbol": "ZNF317",
"hgnc_id": 13507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ala202Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}