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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: 7-35633847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=35633847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 35633847,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022373.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "NM_022373.5",
"protein_id": "NP_071768.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311350.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022373.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000311350.8",
"protein_id": "ENSP00000310729.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022373.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311350.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000396081.5",
"protein_id": "ENSP00000379390.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396081.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "NM_001438072.1",
"protein_id": "NP_001425001.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438072.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000894710.1",
"protein_id": "ENSP00000564769.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894710.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000894713.1",
"protein_id": "ENSP00000564772.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 406,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894713.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000894703.1",
"protein_id": "ENSP00000564762.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 397,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000894704.1",
"protein_id": "ENSP00000564763.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 397,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894704.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000894706.1",
"protein_id": "ENSP00000564765.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 397,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894706.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000894707.1",
"protein_id": "ENSP00000564766.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 397,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894707.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "ENST00000894708.1",
"protein_id": "ENSP00000564767.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 372,
"cds_start": 962,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894708.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "ENST00000894712.1",
"protein_id": "ENSP00000564771.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 372,
"cds_start": 962,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894712.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320His",
"transcript": "ENST00000894716.1",
"protein_id": "ENSP00000564775.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 371,
"cds_start": 959,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894716.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317His",
"transcript": "ENST00000894709.1",
"protein_id": "ENSP00000564768.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 368,
"cds_start": 950,
"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": "ENST00000894709.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317His",
"transcript": "ENST00000924127.1",
"protein_id": "ENSP00000594186.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 368,
"cds_start": 950,
"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": "ENST00000924127.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"transcript": "ENST00000894717.1",
"protein_id": "ENSP00000564776.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 923,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894717.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "NM_001438070.1",
"protein_id": "NP_001424999.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 342,
"cds_start": 872,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438070.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "NM_001438071.1",
"protein_id": "NP_001425000.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 342,
"cds_start": 872,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438071.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000894705.1",
"protein_id": "ENSP00000564764.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 289,
"cds_start": 713,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894705.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000894711.1",
"protein_id": "ENSP00000564770.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 289,
"cds_start": 713,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894711.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206His",
"transcript": "ENST00000894714.1",
"protein_id": "ENSP00000564773.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 257,
"cds_start": 617,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894714.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "ENST00000894715.1",
"protein_id": "ENSP00000564774.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 405,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894715.1"
}
],
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"dbsnp": "rs145422627",
"frequency_reference_population": 0.000032247422,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000232841,
"gnomad_genomes_af": 0.000118182,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016083598136901855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0744,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.269,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022373.5",
"gene_symbol": "HERPUD2",
"hgnc_id": 21915,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His"
}
],
"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
}