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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: 13-95207834-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95207834&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95207834,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000645237.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "NM_005845.5",
"protein_id": "NP_005836.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1325,
"cds_start": 877,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "ENST00000645237.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "ENST00000645237.2",
"protein_id": "ENSP00000494609.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1325,
"cds_start": 877,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "NM_005845.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "ENST00000629385.1",
"protein_id": "ENSP00000487081.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 859,
"cds_start": 877,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "NM_001301829.2",
"protein_id": "NP_001288758.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1278,
"cds_start": 877,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "ENST00000646439.1",
"protein_id": "ENSP00000494751.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1278,
"cds_start": 877,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "NM_001105515.3",
"protein_id": "NP_001098985.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 859,
"cds_start": 877,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Lys218Glu",
"transcript": "NM_001301830.2",
"protein_id": "NP_001288759.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 784,
"cds_start": 652,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Lys218Glu",
"transcript": "ENST00000536256.3",
"protein_id": "ENSP00000442024.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 784,
"cds_start": 652,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Lys306Glu",
"transcript": "ENST00000645532.1",
"protein_id": "ENSP00000494431.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 668,
"cds_start": 916,
"cds_end": null,
"cds_length": 2008,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Lys250Glu",
"transcript": "XM_047430034.1",
"protein_id": "XP_047285990.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 1282,
"cds_start": 748,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Lys110Glu",
"transcript": "XM_047430035.1",
"protein_id": "XP_047285991.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 1142,
"cds_start": 328,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu",
"transcript": "XM_017020320.3",
"protein_id": "XP_016875809.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 830,
"cds_start": 877,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 13712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*910A>G",
"hgvs_p": null,
"transcript": "ENST00000642524.1",
"protein_id": "ENSP00000493766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.877A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*910A>G",
"hgvs_p": null,
"transcript": "ENST00000643556.1",
"protein_id": "ENSP00000494938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.1160A>G",
"hgvs_p": null,
"transcript": "ENST00000643816.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*923A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.973A>G",
"hgvs_p": null,
"transcript": "ENST00000644471.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*910A>G",
"hgvs_p": null,
"transcript": "ENST00000642524.1",
"protein_id": "ENSP00000493766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*910A>G",
"hgvs_p": null,
"transcript": "ENST00000643556.1",
"protein_id": "ENSP00000494938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*923A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"dbsnp": "rs11568684",
"frequency_reference_population": 0.00036571728,
"hom_count_reference_population": 0,
"allele_count_reference_population": 590,
"gnomad_exomes_af": 0.000381231,
"gnomad_genomes_af": 0.000216806,
"gnomad_exomes_ac": 557,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31854674220085144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.628,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.473,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645237.2",
"gene_symbol": "ABCC4",
"hgnc_id": 55,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Lys293Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}