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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: 1-184708319-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=184708319&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EDEM3",
"hgnc_id": 16787,
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001319960.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.7993,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7679544687271118,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 932,
"aa_ref": "D",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_025191.4",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318130.13",
"protein_coding": true,
"protein_id": "NP_079467.3",
"strand": false,
"transcript": "NM_025191.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 932,
"aa_ref": "D",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000318130.13",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025191.4",
"protein_coding": true,
"protein_id": "ENSP00000318147.7",
"strand": false,
"transcript": "ENST00000318130.13",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "D",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000367512.8",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356482.4",
"strand": false,
"transcript": "ENST00000367512.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000439962.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "n.215A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390536.1",
"strand": false,
"transcript": "ENST00000439962.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 957,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6573,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2874,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000686225.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1946A>T",
"hgvs_p": "p.Asp649Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509786.1",
"strand": false,
"transcript": "ENST00000686225.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "D",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6885,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001319960.2",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306889.1",
"strand": false,
"transcript": "NM_001319960.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 937,
"aa_ref": "D",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6583,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2814,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951032.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1871A>T",
"hgvs_p": "p.Asp624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621091.1",
"strand": false,
"transcript": "ENST00000951032.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 933,
"aa_ref": "D",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6603,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2802,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902843.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1874A>T",
"hgvs_p": "p.Asp625Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572902.1",
"strand": false,
"transcript": "ENST00000902843.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902845.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1817A>T",
"hgvs_p": "p.Asp606Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572904.1",
"strand": false,
"transcript": "ENST00000902845.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 913,
"aa_ref": "D",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6539,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1814,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902844.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1814A>T",
"hgvs_p": "p.Asp605Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572903.1",
"strand": false,
"transcript": "ENST00000902844.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 875,
"aa_ref": "D",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1685,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000685596.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1685A>T",
"hgvs_p": "p.Asp562Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510056.1",
"strand": false,
"transcript": "ENST00000685596.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 871,
"aa_ref": "D",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6549,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000686047.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Asp547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508800.1",
"strand": false,
"transcript": "ENST00000686047.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 871,
"aa_ref": "D",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902846.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1688A>T",
"hgvs_p": "p.Asp563Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572905.1",
"strand": false,
"transcript": "ENST00000902846.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000692170.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Asp547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508652.1",
"strand": false,
"transcript": "ENST00000692170.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 855,
"aa_ref": "D",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 2568,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000687113.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Asp547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509571.1",
"strand": false,
"transcript": "ENST00000687113.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 843,
"aa_ref": "D",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2532,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000902847.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1604A>T",
"hgvs_p": "p.Asp535Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572906.1",
"strand": false,
"transcript": "ENST00000902847.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 933,
"aa_ref": "D",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6840,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 2802,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005245499.3",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1874A>T",
"hgvs_p": "p.Asp625Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245556.1",
"strand": false,
"transcript": "XM_005245499.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 856,
"aa_ref": "D",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6794,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011510012.2",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "c.1643A>T",
"hgvs_p": "p.Asp548Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508314.1",
"strand": false,
"transcript": "XM_011510012.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000687397.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "n.1969A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000687397.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7093,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000689766.1",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "n.2573A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000689766.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_135118.2",
"gene_hgnc_id": 16787,
"gene_symbol": "EDEM3",
"hgvs_c": "n.2083A>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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]
}