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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: 13-95021612-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95021612&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95021612,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005845.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3941A>G",
"hgvs_p": "p.Gln1314Arg",
"transcript": "NM_005845.5",
"protein_id": "NP_005836.2",
"transcript_support_level": null,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3941,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "ENST00000645237.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005845.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3941A>G",
"hgvs_p": "p.Gln1314Arg",
"transcript": "ENST00000645237.2",
"protein_id": "ENSP00000494609.1",
"transcript_support_level": null,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3941,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "NM_005845.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645237.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3965A>G",
"hgvs_p": "p.Gln1322Arg",
"transcript": "ENST00000967420.1",
"protein_id": "ENSP00000637479.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967420.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3938A>G",
"hgvs_p": "p.Gln1313Arg",
"transcript": "ENST00000967421.1",
"protein_id": "ENSP00000637480.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3938,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3974,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967421.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Gln1284Arg",
"transcript": "ENST00000903573.1",
"protein_id": "ENSP00000573632.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3851,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3988,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903573.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Gln1284Arg",
"transcript": "ENST00000932202.1",
"protein_id": "ENSP00000602261.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3851,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 4359,
"cdna_end": null,
"cdna_length": 6135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932202.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3839A>G",
"hgvs_p": "p.Gln1280Arg",
"transcript": "ENST00000932206.1",
"protein_id": "ENSP00000602265.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3839,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3953,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932206.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3800A>G",
"hgvs_p": "p.Gln1267Arg",
"transcript": "NM_001301829.2",
"protein_id": "NP_001288758.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3937,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301829.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3800A>G",
"hgvs_p": "p.Gln1267Arg",
"transcript": "ENST00000646439.1",
"protein_id": "ENSP00000494751.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3805,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646439.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3785A>G",
"hgvs_p": "p.Gln1262Arg",
"transcript": "ENST00000932205.1",
"protein_id": "ENSP00000602264.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3904,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932205.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3749A>G",
"hgvs_p": "p.Gln1250Arg",
"transcript": "ENST00000932204.1",
"protein_id": "ENSP00000602263.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3749,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 5658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932204.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3662A>G",
"hgvs_p": "p.Gln1221Arg",
"transcript": "ENST00000903574.1",
"protein_id": "ENSP00000573633.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3662,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903574.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3590A>G",
"hgvs_p": "p.Gln1197Arg",
"transcript": "ENST00000932203.1",
"protein_id": "ENSP00000602262.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932203.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3812A>G",
"hgvs_p": "p.Gln1271Arg",
"transcript": "XM_047430034.1",
"protein_id": "XP_047285990.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3812,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3974,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430034.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Gln1131Arg",
"transcript": "XM_047430035.1",
"protein_id": "XP_047285991.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*1852A>G",
"hgvs_p": null,
"transcript": "ENST00000643051.1",
"protein_id": "ENSP00000495513.1",
"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": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*3987A>G",
"hgvs_p": null,
"transcript": "ENST00000643842.1",
"protein_id": "ENSP00000493861.1",
"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": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*1852A>G",
"hgvs_p": null,
"transcript": "ENST00000643051.1",
"protein_id": "ENSP00000495513.1",
"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": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*3987A>G",
"hgvs_p": null,
"transcript": "ENST00000643842.1",
"protein_id": "ENSP00000493861.1",
"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": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*64A>G",
"hgvs_p": null,
"transcript": "ENST00000471041.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 747,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471041.2"
}
],
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"dbsnp": "rs11568688",
"frequency_reference_population": 0.00003347189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000266948,
"gnomad_genomes_af": 0.0000984665,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05950522422790527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.0781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.975,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005845.5",
"gene_symbol": "ABCC4",
"hgnc_id": 55,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3941A>G",
"hgvs_p": "p.Gln1314Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}