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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: 13-95074263-AC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95074263&ref=AC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC4",
"hgnc_id": 55,
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005845.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 3978,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005845.5",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645237.2",
"protein_coding": true,
"protein_id": "NP_005836.2",
"strand": false,
"transcript": "NM_005845.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 3978,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645237.2",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005845.5",
"protein_coding": true,
"protein_id": "ENSP00000494609.1",
"strand": false,
"transcript": "ENST00000645237.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1333,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 4002,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967420.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637479.1",
"strand": false,
"transcript": "ENST00000967420.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "C",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3975,
"cds_start": 2864,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967421.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2864_2865delGTinsTC",
"hgvs_p": "p.Cys955Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637480.1",
"strand": false,
"transcript": "ENST00000967421.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "C",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903573.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2777_2778delGTinsTC",
"hgvs_p": "p.Cys926Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573632.1",
"strand": false,
"transcript": "ENST00000903573.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932202.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602261.1",
"strand": false,
"transcript": "ENST00000932202.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "C",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 2880,
"cds_end": null,
"cds_length": 3876,
"cds_start": 2765,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932206.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2765_2766delGTinsTC",
"hgvs_p": "p.Cys922Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602265.1",
"strand": false,
"transcript": "ENST00000932206.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "C",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5714,
"cdna_start": 2864,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2726,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301829.2",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2726_2727delGTinsTC",
"hgvs_p": "p.Cys909Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288758.1",
"strand": false,
"transcript": "NM_001301829.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "C",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2726,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646439.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2726_2727delGTinsTC",
"hgvs_p": "p.Cys909Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494751.1",
"strand": false,
"transcript": "ENST00000646439.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 3822,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932205.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602264.1",
"strand": false,
"transcript": "ENST00000932205.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "C",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 3786,
"cds_start": 2675,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932204.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2675_2676delGTinsTC",
"hgvs_p": "p.Cys892Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602263.1",
"strand": false,
"transcript": "ENST00000932204.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "C",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 3699,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903574.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2867_2868delGTinsTC",
"hgvs_p": "p.Cys956Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573633.1",
"strand": false,
"transcript": "ENST00000903574.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "C",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932203.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2516_2517delGTinsTC",
"hgvs_p": "p.Cys839Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602262.1",
"strand": false,
"transcript": "ENST00000932203.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "C",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3849,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430034.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2738_2739delGTinsTC",
"hgvs_p": "p.Cys913Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285990.1",
"strand": false,
"transcript": "XM_047430034.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "C",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 3429,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430035.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2318_2319delGTinsTC",
"hgvs_p": "p.Cys773Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285991.1",
"strand": false,
"transcript": "XM_047430035.1",
"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": 357,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467685.2",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.340_341delGTinsTC",
"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": "ENST00000467685.2",
"transcript_support_level": 3
},
{
"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": 6171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000643051.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*492_*493delGTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495513.1",
"strand": false,
"transcript": "ENST00000643051.1",
"transcript_support_level": null
},
{
"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": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000643842.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*2913_*2914delGTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493861.1",
"strand": false,
"transcript": "ENST00000643842.1",
"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": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644880.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.477_478delGTinsTC",
"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": "ENST00000644880.1",
"transcript_support_level": null
},
{
"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": 6171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000643051.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*492_*493delGTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495513.1",
"strand": false,
"transcript": "ENST00000643051.1",
"transcript_support_level": null
},
{
"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": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000643842.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*2913_*2914delGTinsTC",
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}