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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: 17-44398626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44398626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44398626,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001002909.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3451C>T",
"hgvs_p": "p.Leu1151Phe",
"transcript": "NM_001002909.4",
"protein_id": "NP_001002909.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1502,
"cds_start": 3451,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000591680.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002909.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3451C>T",
"hgvs_p": "p.Leu1151Phe",
"transcript": "ENST00000591680.6",
"protein_id": "ENSP00000467556.1",
"transcript_support_level": 2,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1502,
"cds_start": 3451,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002909.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "n.*3337C>T",
"hgvs_p": null,
"transcript": "ENST00000587228.5",
"protein_id": "ENSP00000468719.1",
"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": "ENST00000587228.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "n.*3337C>T",
"hgvs_p": null,
"transcript": "ENST00000587228.5",
"protein_id": "ENSP00000468719.1",
"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": "ENST00000587228.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3376C>T",
"hgvs_p": "p.Leu1126Phe",
"transcript": "NM_001304939.2",
"protein_id": "NP_001291868.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3376,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304939.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Leu1075Phe",
"transcript": "ENST00000928550.1",
"protein_id": "ENSP00000598609.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3223,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928550.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Leu1073Phe",
"transcript": "NM_001304940.2",
"protein_id": "NP_001291869.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3217,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304940.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Leu1073Phe",
"transcript": "NM_001304941.2",
"protein_id": "NP_001291870.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3217,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304941.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Leu1073Phe",
"transcript": "NM_001304942.2",
"protein_id": "NP_001291871.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3217,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304942.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Leu1073Phe",
"transcript": "NM_001304943.2",
"protein_id": "NP_001291872.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3217,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304943.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3079C>T",
"hgvs_p": "p.Leu1027Phe",
"transcript": "ENST00000928549.1",
"protein_id": "ENSP00000598608.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3079,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928549.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Leu1002Phe",
"transcript": "ENST00000928548.1",
"protein_id": "ENSP00000598607.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3004,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928548.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3538C>T",
"hgvs_p": "p.Leu1180Phe",
"transcript": "XM_011524557.2",
"protein_id": "XP_011522859.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3538,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524557.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_011524558.3",
"protein_id": "XP_011522860.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524558.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_011524559.3",
"protein_id": "XP_011522861.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524559.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_011524561.3",
"protein_id": "XP_011522863.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524561.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_017024373.2",
"protein_id": "XP_016879862.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024373.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_047435672.1",
"protein_id": "XP_047291628.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435672.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3304C>T",
"hgvs_p": "p.Leu1102Phe",
"transcript": "XM_047435673.1",
"protein_id": "XP_047291629.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3304,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435673.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Leu1073Phe",
"transcript": "XM_047435674.1",
"protein_id": "XP_047291630.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3217,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "n.4767C>T",
"hgvs_p": null,
"transcript": "ENST00000335500.8",
"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": "ENST00000335500.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"hgvs_c": "n.3550C>T",
"hgvs_p": null,
"transcript": "ENST00000635257.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000635257.1"
}
],
"gene_symbol": "GPATCH8",
"gene_hgnc_id": 29066,
"dbsnp": "rs746566647",
"frequency_reference_population": 0.00004141178,
"hom_count_reference_population": 1,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000423455,
"gnomad_genomes_af": 0.0000328614,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42149385809898376,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.4038,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.756,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001002909.4",
"gene_symbol": "GPATCH8",
"hgnc_id": 29066,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3451C>T",
"hgvs_p": "p.Leu1151Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}