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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: 19-10093456-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10093456&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10093456,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_031917.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "NM_031917.3",
"protein_id": "NP_114123.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031917.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000253109.5",
"protein_id": "ENSP00000253109.3",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031917.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253109.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000592641.5",
"protein_id": "ENSP00000467930.1",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592641.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "NM_001321411.2",
"protein_id": "NP_001308340.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321411.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "NM_001387347.1",
"protein_id": "NP_001374276.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387347.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "NM_001387348.1",
"protein_id": "NP_001374277.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387348.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000890998.1",
"protein_id": "ENSP00000561057.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890998.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000890999.1",
"protein_id": "ENSP00000561058.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890999.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000891002.1",
"protein_id": "ENSP00000561061.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891002.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro",
"transcript": "ENST00000930867.1",
"protein_id": "ENSP00000600926.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 470,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930867.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.His353Pro",
"transcript": "ENST00000891000.1",
"protein_id": "ENSP00000561059.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 451,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891000.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.His353Pro",
"transcript": "ENST00000891001.1",
"protein_id": "ENSP00000561060.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 451,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891001.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.995A>C",
"hgvs_p": "p.His332Pro",
"transcript": "ENST00000589181.5",
"protein_id": "ENSP00000465597.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 430,
"cds_start": 995,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589181.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.His270Pro",
"transcript": "ENST00000891003.1",
"protein_id": "ENSP00000561062.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 368,
"cds_start": 809,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891003.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.His439Pro",
"transcript": "XM_011528348.4",
"protein_id": "XP_011526650.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 537,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528348.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.His439Pro",
"transcript": "XM_011528349.4",
"protein_id": "XP_011526651.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 537,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528349.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "NM_018381.4",
"protein_id": "NP_060851.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253110.16",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018381.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "ENST00000253110.16",
"protein_id": "ENSP00000253110.10",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018381.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253110.16"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "ENST00000971497.1",
"protein_id": "ENSP00000641556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971497.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "ENST00000891192.1",
"protein_id": "ENSP00000561251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891192.1"
},
{
"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": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "ENST00000891195.1",
"protein_id": "ENSP00000561254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891195.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1154T>G",
"hgvs_p": null,
"transcript": "NM_001308277.2",
"protein_id": "NP_001295206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308277.2"
},
{
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],
"gene_symbol": "ANGPTL6",
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"dbsnp": "rs1480689695",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000205236,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7196506261825562,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.425,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6447,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.644,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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_031917.3",
"gene_symbol": "ANGPTL6",
"hgnc_id": 23140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.His372Pro"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_018381.4",
"gene_symbol": "SHFL",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "ANGPTL6-related disorder,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "ANGPTL6-related disorder|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}