← 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: 9-136370572-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136370572&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136370572,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_052813.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "NM_052813.5",
"protein_id": "NP_434700.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371732.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052813.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000371732.10",
"protein_id": "ENSP00000360797.5",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052813.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371732.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289701",
"gene_hgnc_id": null,
"hgvs_c": "n.757G>C",
"hgvs_p": null,
"transcript": "ENST00000696169.1",
"protein_id": "ENSP00000512460.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696169.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892159.1",
"protein_id": "ENSP00000562218.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892159.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892162.1",
"protein_id": "ENSP00000562221.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892162.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892163.1",
"protein_id": "ENSP00000562222.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892163.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000967104.1",
"protein_id": "ENSP00000637163.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 536,
"cds_start": 757,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967104.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.748G>C",
"hgvs_p": "p.Glu250Gln",
"transcript": "ENST00000892160.1",
"protein_id": "ENSP00000562219.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 533,
"cds_start": 748,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892160.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892158.1",
"protein_id": "ENSP00000562217.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 531,
"cds_start": 757,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892158.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892161.1",
"protein_id": "ENSP00000562220.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 530,
"cds_start": 757,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892161.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892157.1",
"protein_id": "ENSP00000562216.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 497,
"cds_start": 757,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892157.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000892164.1",
"protein_id": "ENSP00000562223.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 497,
"cds_start": 757,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892164.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "NM_052814.4",
"protein_id": "NP_434701.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 492,
"cds_start": 757,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052814.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln",
"transcript": "ENST00000371734.7",
"protein_id": "ENSP00000360799.3",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 492,
"cds_start": 757,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371734.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.183G>C",
"hgvs_p": null,
"transcript": "ENST00000485975.1",
"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": "ENST00000485975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.757G>C",
"hgvs_p": null,
"transcript": "ENST00000489932.2",
"protein_id": "ENSP00000451368.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000489932.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.762G>C",
"hgvs_p": null,
"transcript": "ENST00000641290.2",
"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": "retained_intron",
"feature": "ENST00000641290.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.885G>C",
"hgvs_p": null,
"transcript": "ENST00000695905.1",
"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": "retained_intron",
"feature": "ENST00000695905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.885G>C",
"hgvs_p": null,
"transcript": "ENST00000695906.1",
"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": "retained_intron",
"feature": "ENST00000695906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300558",
"gene_hgnc_id": null,
"hgvs_c": "n.85-1348C>G",
"hgvs_p": null,
"transcript": "ENST00000772719.1",
"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": "ENST00000772719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"hgvs_c": "n.*22G>C",
"hgvs_p": null,
"transcript": "ENST00000556340.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000556340.1"
}
],
"gene_symbol": "CARD9",
"gene_hgnc_id": 16391,
"dbsnp": "rs748703154",
"frequency_reference_population": 0.000016139003,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.000015767,
"gnomad_genomes_af": 0.0000197031,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1821812093257904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.291,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052813.5",
"gene_symbol": "CARD9",
"hgnc_id": 16391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Glu253Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000696169.1",
"gene_symbol": "ENSG00000289701",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.757G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000772719.1",
"gene_symbol": "ENSG00000300558",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.85-1348C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Predisposition to invasive fungal disease due to CARD9 deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Predisposition to invasive fungal disease due to CARD9 deficiency|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}