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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: 1-184708330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=184708330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 184708330,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001319960.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile",
"transcript": "NM_025191.4",
"protein_id": "NP_079467.3",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 932,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318130.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025191.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile",
"transcript": "ENST00000318130.13",
"protein_id": "ENSP00000318147.7",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 932,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025191.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318130.13"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile",
"transcript": "ENST00000367512.8",
"protein_id": "ENSP00000356482.4",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 948,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367512.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"transcript": "ENST00000439962.1",
"protein_id": "ENSP00000390536.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000439962.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Ile645Ile",
"transcript": "ENST00000686225.1",
"protein_id": "ENSP00000509786.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 957,
"cds_start": 1935,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686225.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile",
"transcript": "NM_001319960.2",
"protein_id": "NP_001306889.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 948,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319960.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile",
"transcript": "ENST00000951032.1",
"protein_id": "ENSP00000621091.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 937,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951032.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Ile621Ile",
"transcript": "ENST00000902843.1",
"protein_id": "ENSP00000572902.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 933,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902843.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1806C>T",
"hgvs_p": "p.Ile602Ile",
"transcript": "ENST00000902845.1",
"protein_id": "ENSP00000572904.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 914,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902845.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1803C>T",
"hgvs_p": "p.Ile601Ile",
"transcript": "ENST00000902844.1",
"protein_id": "ENSP00000572903.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 913,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902844.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1674C>T",
"hgvs_p": "p.Ile558Ile",
"transcript": "ENST00000685596.1",
"protein_id": "ENSP00000510056.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 875,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685596.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"transcript": "ENST00000686047.1",
"protein_id": "ENSP00000508800.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 871,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686047.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1677C>T",
"hgvs_p": "p.Ile559Ile",
"transcript": "ENST00000902846.1",
"protein_id": "ENSP00000572905.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 871,
"cds_start": 1677,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902846.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"transcript": "ENST00000692170.1",
"protein_id": "ENSP00000508652.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 870,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692170.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"transcript": "ENST00000687113.1",
"protein_id": "ENSP00000509571.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 855,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687113.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Ile531Ile",
"transcript": "ENST00000902847.1",
"protein_id": "ENSP00000572906.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 843,
"cds_start": 1593,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902847.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Ile621Ile",
"transcript": "XM_005245499.3",
"protein_id": "XP_005245556.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 933,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245499.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "c.1632C>T",
"hgvs_p": "p.Ile544Ile",
"transcript": "XM_011510012.2",
"protein_id": "XP_011508314.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 856,
"cds_start": 1632,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510012.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "n.1958C>T",
"hgvs_p": null,
"transcript": "ENST00000687397.1",
"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": "ENST00000687397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "n.2562C>T",
"hgvs_p": null,
"transcript": "ENST00000689766.1",
"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": "ENST00000689766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "n.2072C>T",
"hgvs_p": null,
"transcript": "NR_135118.2",
"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": "pseudogene",
"feature": "NR_135118.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EDEM3",
"gene_hgnc_id": 16787,
"hgvs_c": "n.1846-120C>T",
"hgvs_p": null,
"transcript": "ENST00000685249.1",
"protein_id": "ENSP00000508618.1",
"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": "ENST00000685249.1"
}
],
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"dbsnp": "rs3736757",
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"hom_count_reference_population": 213410,
"allele_count_reference_population": 817382,
"gnomad_exomes_af": 0.50068,
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"gnomad_exomes_ac": 729520,
"gnomad_genomes_ac": 87862,
"gnomad_exomes_homalt": 186335,
"gnomad_genomes_homalt": 27075,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.012,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001319960.2",
"gene_symbol": "EDEM3",
"hgnc_id": 16787,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Ile620Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}