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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: 10-102423700-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102423700&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CUEDC2",
"hgnc_id": 28352,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_024040.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 24,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1167,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15675532817840576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 733,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_024040.3",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369937.5",
"protein_coding": true,
"protein_id": "NP_076945.2",
"strand": false,
"transcript": "NM_024040.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 733,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369937.5",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024040.3",
"protein_coding": true,
"protein_id": "ENSP00000358953.4",
"strand": false,
"transcript": "ENST00000369937.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 289,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1122,
"cdna_start": 755,
"cds_end": null,
"cds_length": 870,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888785.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558844.1",
"strand": false,
"transcript": "ENST00000888785.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 289,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 763,
"cds_end": null,
"cds_length": 870,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925790.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595849.1",
"strand": false,
"transcript": "ENST00000925790.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 289,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1106,
"cdna_start": 739,
"cds_end": null,
"cds_length": 870,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925792.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595851.1",
"strand": false,
"transcript": "ENST00000925792.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 874,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888778.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558837.1",
"strand": false,
"transcript": "ENST00000888778.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 831,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888779.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558838.1",
"strand": false,
"transcript": "ENST00000888779.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 994,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888780.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558839.1",
"strand": false,
"transcript": "ENST00000888780.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 812,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888781.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558840.1",
"strand": false,
"transcript": "ENST00000888781.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 894,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888783.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558842.1",
"strand": false,
"transcript": "ENST00000888783.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 923,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925786.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595845.1",
"strand": false,
"transcript": "ENST00000925786.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 893,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925787.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595846.1",
"strand": false,
"transcript": "ENST00000925787.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 755,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925788.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595847.1",
"strand": false,
"transcript": "ENST00000925788.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 790,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925793.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595852.1",
"strand": false,
"transcript": "ENST00000925793.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 864,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925794.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595853.1",
"strand": false,
"transcript": "ENST00000925794.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 892,
"cds_end": null,
"cds_length": 864,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941433.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611492.1",
"strand": false,
"transcript": "ENST00000941433.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": 751,
"cds_end": null,
"cds_length": 828,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941431.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Ser225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611490.1",
"strand": false,
"transcript": "ENST00000941431.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 269,
"aa_ref": "S",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1062,
"cdna_start": 692,
"cds_end": null,
"cds_length": 810,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888784.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Ser207Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558843.1",
"strand": false,
"transcript": "ENST00000888784.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 262,
"aa_ref": "S",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 658,
"cds_end": null,
"cds_length": 789,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941432.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Ser200Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611491.1",
"strand": false,
"transcript": "ENST00000941432.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 261,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 686,
"cds_end": null,
"cds_length": 786,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888782.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Ser199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558841.1",
"strand": false,
"transcript": "ENST00000888782.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 226,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 577,
"cds_end": null,
"cds_length": 681,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925789.1",
"gene_hgnc_id": 28352,
"gene_symbol": "CUEDC2",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Ser164Asn",
"intron_rank": null,
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{
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{
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],
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]
}