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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: 1-44874685-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44874685&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44874685,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_020365.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "NM_020365.5",
"protein_id": "NP_065098.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 452,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "ENST00000360403.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020365.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "ENST00000360403.7",
"protein_id": "ENSP00000353575.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 452,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "NM_020365.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360403.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "ENST00000372183.7",
"protein_id": "ENSP00000361257.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 412,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372183.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "ENST00000620860.4",
"protein_id": "ENSP00000483996.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 401,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620860.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1256_1257delTG",
"hgvs_p": "p.Val419fs",
"transcript": "ENST00000852384.1",
"protein_id": "ENSP00000522443.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 473,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852384.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "ENST00000852379.1",
"protein_id": "ENSP00000522438.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852379.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1190_1191delTG",
"hgvs_p": "p.Val397fs",
"transcript": "ENST00000949285.1",
"protein_id": "ENSP00000619344.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 451,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949285.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1184_1185delTG",
"hgvs_p": "p.Val395fs",
"transcript": "ENST00000852382.1",
"protein_id": "ENSP00000522441.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 449,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852382.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1115_1116delTG",
"hgvs_p": "p.Val372fs",
"transcript": "ENST00000852383.1",
"protein_id": "ENSP00000522442.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 426,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852383.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1109_1110delTG",
"hgvs_p": "p.Val370fs",
"transcript": "ENST00000913758.1",
"protein_id": "ENSP00000583817.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 424,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913758.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1103_1104delTG",
"hgvs_p": "p.Val368fs",
"transcript": "ENST00000852380.1",
"protein_id": "ENSP00000522439.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 422,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852380.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1103_1104delTG",
"hgvs_p": "p.Val368fs",
"transcript": "ENST00000913759.1",
"protein_id": "ENSP00000583818.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 421,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913759.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "NM_001166588.3",
"protein_id": "NP_001160060.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 412,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166588.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs",
"transcript": "NM_001261418.2",
"protein_id": "NP_001248347.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 401,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261418.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.653_654delTG",
"hgvs_p": "p.Val218fs",
"transcript": "ENST00000439363.5",
"protein_id": "ENSP00000396985.1",
"transcript_support_level": 3,
"aa_start": 218,
"aa_end": null,
"aa_length": 221,
"cds_start": 653,
"cds_end": null,
"cds_length": 666,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439363.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1103_1104delTG",
"hgvs_p": "p.Val368fs",
"transcript": "XM_047433499.1",
"protein_id": "XP_047289455.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 422,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433499.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.1103_1104delTG",
"hgvs_p": "p.Val368fs",
"transcript": "XM_047433500.1",
"protein_id": "XP_047289456.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 371,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433500.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.806_807delTG",
"hgvs_p": "p.Val269fs",
"transcript": "XM_047433501.1",
"protein_id": "XP_047289457.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 323,
"cds_start": 806,
"cds_end": null,
"cds_length": 972,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433501.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.657-16880_657-16879delTG",
"hgvs_p": null,
"transcript": "ENST00000852381.1",
"protein_id": "ENSP00000522440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "n.145_146delTG",
"hgvs_p": null,
"transcript": "ENST00000486491.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 312,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486491.1"
}
],
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"dbsnp": "rs113994026",
"frequency_reference_population": 0.0000018586854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.165,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_020365.5",
"gene_symbol": "EIF2B3",
"hgnc_id": 3259,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1193_1194delTG",
"hgvs_p": "p.Val398fs"
}
],
"clinvar_disease": "Leukoencephalopathy with vanishing white matter 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Leukoencephalopathy with vanishing white matter 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}