← Back to variant description
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: 9-137435301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137435301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137435301,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001033113.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "NM_001033113.2",
"protein_id": "NP_001028285.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371506.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033113.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000371506.7",
"protein_id": "ENSP00000360561.2",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033113.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371506.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000344119.6",
"protein_id": "ENSP00000344089.2",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344119.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000881602.1",
"protein_id": "ENSP00000551661.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881602.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000912768.1",
"protein_id": "ENSP00000582827.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912768.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000967091.1",
"protein_id": "ENSP00000637150.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967091.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000967094.1",
"protein_id": "ENSP00000637153.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967094.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Arg382Leu",
"transcript": "ENST00000967090.1",
"protein_id": "ENSP00000637149.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 477,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967090.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1130G>T",
"hgvs_p": "p.Arg377Leu",
"transcript": "ENST00000881605.1",
"protein_id": "ENSP00000551664.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 472,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881605.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "NM_198585.3",
"protein_id": "NP_940987.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198585.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000881603.1",
"protein_id": "ENSP00000551662.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881603.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000881610.1",
"protein_id": "ENSP00000551669.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881610.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000881611.1",
"protein_id": "ENSP00000551670.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881611.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000912767.1",
"protein_id": "ENSP00000582826.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 458,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912767.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1052G>T",
"hgvs_p": "p.Arg351Leu",
"transcript": "ENST00000881609.1",
"protein_id": "ENSP00000551668.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 446,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881609.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1019G>T",
"hgvs_p": "p.Arg340Leu",
"transcript": "ENST00000881604.1",
"protein_id": "ENSP00000551663.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 435,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881604.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu",
"transcript": "ENST00000967093.1",
"protein_id": "ENSP00000637152.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 433,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967093.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000967092.1",
"protein_id": "ENSP00000637151.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 401,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967092.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.881G>T",
"hgvs_p": "p.Arg294Leu",
"transcript": "ENST00000881606.1",
"protein_id": "ENSP00000551665.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 389,
"cds_start": 881,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881606.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"transcript": "ENST00000881607.1",
"protein_id": "ENSP00000551666.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 352,
"cds_start": 770,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881607.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "c.755G>T",
"hgvs_p": "p.Arg252Leu",
"transcript": "ENST00000881608.1",
"protein_id": "ENSP00000551667.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 347,
"cds_start": 755,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881608.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"hgvs_c": "n.1997G>T",
"hgvs_p": null,
"transcript": "ENST00000461823.1",
"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": "ENST00000461823.1"
}
],
"gene_symbol": "ENTPD8",
"gene_hgnc_id": 24860,
"dbsnp": "rs78674871",
"frequency_reference_population": 0.00006512856,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.000067125,
"gnomad_genomes_af": 0.0000459818,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007720291614532471,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.255,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.021,
"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": -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_001033113.2",
"gene_symbol": "ENTPD8",
"hgnc_id": 24860,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Arg400Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}