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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: 1-27744654-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27744654&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27744654,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001143912.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "NM_152660.3",
"protein_id": "NP_689873.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 307,
"cds_start": 355,
"cds_end": null,
"cds_length": 924,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": "ENST00000373954.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152660.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000373954.11",
"protein_id": "ENSP00000363065.5",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 307,
"cds_start": 355,
"cds_end": null,
"cds_length": 924,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": "NM_152660.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373954.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000010299.10",
"protein_id": "ENSP00000010299.6",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 341,
"cds_start": 457,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000010299.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000234549.11",
"protein_id": "ENSP00000234549.7",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 312,
"cds_start": 457,
"cds_end": null,
"cds_length": 939,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234549.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000530324.5",
"protein_id": "ENSP00000436176.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 288,
"cds_start": 355,
"cds_end": null,
"cds_length": 867,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530324.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001143912.2",
"protein_id": "NP_001137384.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 341,
"cds_start": 457,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143912.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Val150Leu",
"transcript": "ENST00000944839.1",
"protein_id": "ENSP00000614898.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 338,
"cds_start": 448,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944839.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000894824.1",
"protein_id": "ENSP00000564883.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894824.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001143913.2",
"protein_id": "NP_001137385.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 312,
"cds_start": 457,
"cds_end": null,
"cds_length": 939,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143913.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "NM_001143914.2",
"protein_id": "NP_001137386.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 278,
"cds_start": 355,
"cds_end": null,
"cds_length": 837,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143914.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000373949.5",
"protein_id": "ENSP00000363060.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 278,
"cds_start": 355,
"cds_end": null,
"cds_length": 837,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373949.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Val68Leu",
"transcript": "ENST00000912089.1",
"protein_id": "ENSP00000582148.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 268,
"cds_start": 202,
"cds_end": null,
"cds_length": 807,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912089.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Val68Leu",
"transcript": "ENST00000894823.1",
"protein_id": "ENSP00000564882.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 256,
"cds_start": 202,
"cds_end": null,
"cds_length": 771,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894823.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Val68Leu",
"transcript": "NM_001143915.2",
"protein_id": "NP_001137387.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 227,
"cds_start": 202,
"cds_end": null,
"cds_length": 684,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143915.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Val68Leu",
"transcript": "ENST00000419687.6",
"protein_id": "ENSP00000395150.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 227,
"cds_start": 202,
"cds_end": null,
"cds_length": 684,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419687.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Val119Leu",
"transcript": "XM_017000543.3",
"protein_id": "XP_016856032.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 253,
"cds_start": 355,
"cds_end": null,
"cds_length": 762,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000543.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"hgvs_c": "c.-120G>T",
"hgvs_p": null,
"transcript": "ENST00000446647.1",
"protein_id": "ENSP00000393171.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446647.1"
}
],
"gene_symbol": "FAM76A",
"gene_hgnc_id": 28530,
"dbsnp": "rs1390823717",
"frequency_reference_population": 0.0000018590794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136841,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6747256517410278,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7900000214576721,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.8249,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.949,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.989461083142616,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001143912.2",
"gene_symbol": "FAM76A",
"hgnc_id": 28530,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}