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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: 3-197889680-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197889680&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197889680,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032263.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "NM_032263.5",
"protein_id": "NP_115639.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265239.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032263.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "ENST00000265239.11",
"protein_id": "ENSP00000265239.6",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032263.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265239.11"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Arg455Thr",
"transcript": "ENST00000960928.1",
"protein_id": "ENSP00000630987.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 487,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960928.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Arg455Thr",
"transcript": "ENST00000960931.1",
"protein_id": "ENSP00000630990.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 487,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960931.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "NM_001134435.3",
"protein_id": "NP_001127907.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134435.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "NM_001323027.2",
"protein_id": "NP_001309956.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323027.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "ENST00000455191.5",
"protein_id": "ENSP00000407736.1",
"transcript_support_level": 2,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455191.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "ENST00000860776.1",
"protein_id": "ENSP00000530835.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860776.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "ENST00000960926.1",
"protein_id": "ENSP00000630985.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960926.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "ENST00000960930.1",
"protein_id": "ENSP00000630989.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960930.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1199G>C",
"hgvs_p": "p.Arg400Thr",
"transcript": "ENST00000960927.1",
"protein_id": "ENSP00000630986.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 432,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960927.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Thr",
"transcript": "ENST00000860775.1",
"protein_id": "ENSP00000530834.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 430,
"cds_start": 1193,
"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": "ENST00000860775.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Thr",
"transcript": "ENST00000960929.1",
"protein_id": "ENSP00000630988.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 430,
"cds_start": 1193,
"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": "ENST00000960929.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1175G>C",
"hgvs_p": "p.Arg392Thr",
"transcript": "NM_001323028.2",
"protein_id": "NP_001309957.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 424,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323028.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Arg386Thr",
"transcript": "ENST00000860777.1",
"protein_id": "ENSP00000530836.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 418,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860777.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Arg386Thr",
"transcript": "ENST00000960925.1",
"protein_id": "ENSP00000630984.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 418,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960925.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Arg332Thr",
"transcript": "ENST00000935512.1",
"protein_id": "ENSP00000605571.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 364,
"cds_start": 995,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935512.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.938G>C",
"hgvs_p": "p.Arg313Thr",
"transcript": "NM_001323029.2",
"protein_id": "NP_001309958.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 345,
"cds_start": 938,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323029.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC9",
"gene_hgnc_id": 25251,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr",
"transcript": "XM_024453790.2",
"protein_id": "XP_024309558.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 443,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453790.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "n.879G>C",
"hgvs_p": null,
"transcript": "ENST00000478903.5",
"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": "ENST00000478903.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "n.423G>C",
"hgvs_p": null,
"transcript": "ENST00000485787.1",
"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": "pseudogene",
"feature": "ENST00000485787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCG",
"gene_hgnc_id": 25251,
"hgvs_c": "n.1202G>C",
"hgvs_p": null,
"transcript": "ENST00000490748.5",
"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": "ENST00000490748.5"
}
],
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"dbsnp": "rs139605751",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.841e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23905885219573975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.2896,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.155,
"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_032263.5",
"gene_symbol": "DRC9",
"hgnc_id": 25251,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265239.11",
"gene_symbol": "IQCG",
"hgnc_id": 25251,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}