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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: 8-134666561-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=134666561&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 134666561,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000377838.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null,
"transcript": "NM_020863.4",
"protein_id": "NP_065914.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": "ENST00000377838.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000377838.8",
"protein_id": "ENSP00000367069.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": "NM_020863.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000520214.5",
"protein_id": "ENSP00000428483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-18+8169G>C",
"hgvs_p": null,
"transcript": "ENST00000520727.5",
"protein_id": "ENSP00000427831.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000523399.5",
"protein_id": "ENSP00000429091.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000429442.6",
"protein_id": "ENSP00000394501.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": -4,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000520356.5",
"protein_id": "ENSP00000427879.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.20-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000523243.5",
"protein_id": "ENSP00000429930.1",
"transcript_support_level": 1,
"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": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-18+8169G>C",
"hgvs_p": null,
"transcript": "NM_001029939.4",
"protein_id": "NP_001025110.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "NM_001167583.3",
"protein_id": "NP_001161055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-18+8169G>C",
"hgvs_p": null,
"transcript": "NM_001289394.2",
"protein_id": "NP_001276323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
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"cds_length": 3696,
"cdna_start": null,
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"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null,
"transcript": "NM_001174157.2",
"protein_id": "NP_001167628.1",
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"aa_start": null,
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"aa_length": 1181,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "NM_001174158.2",
"protein_id": "NP_001167629.1",
"transcript_support_level": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000518191.1",
"protein_id": "ENSP00000428192.1",
"transcript_support_level": 4,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.125-8824G>C",
"hgvs_p": null,
"transcript": "ENST00000522974.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.*1+8169G>C",
"hgvs_p": null,
"transcript": "ENST00000523924.5",
"protein_id": "ENSP00000429050.1",
"transcript_support_level": 2,
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.188-8824G>C",
"hgvs_p": null,
"transcript": "NR_110323.2",
"protein_id": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null,
"transcript": "XM_047422062.1",
"protein_id": "XP_047278018.1",
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"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
"hgvs_p": null,
"transcript": "XM_047422063.1",
"protein_id": "XP_047278019.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.-17-8824G>C",
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"transcript": "XM_011517206.2",
"protein_id": "XP_011515508.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.188-8824G>C",
"hgvs_p": null,
"transcript": "XR_007060750.1",
"protein_id": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"dbsnp": "rs9785140",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.734,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377838.8",
"gene_symbol": "ZFAT",
"hgnc_id": 19899,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20-8824G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}