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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: 1-44879960-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44879960&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44879960,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020365.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "NM_020365.5",
"protein_id": "NP_065098.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 452,
"cds_start": 833,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "ENST00000360403.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020365.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000360403.7",
"protein_id": "ENSP00000353575.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 452,
"cds_start": 833,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "NM_020365.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360403.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000372183.7",
"protein_id": "ENSP00000361257.3",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 412,
"cds_start": 833,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372183.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000620860.4",
"protein_id": "ENSP00000483996.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 401,
"cds_start": 833,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620860.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Tyr299Cys",
"transcript": "ENST00000852384.1",
"protein_id": "ENSP00000522443.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 473,
"cds_start": 896,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852384.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000852379.1",
"protein_id": "ENSP00000522438.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 451,
"cds_start": 833,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852379.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.Tyr277Cys",
"transcript": "ENST00000949285.1",
"protein_id": "ENSP00000619344.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 451,
"cds_start": 830,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949285.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Tyr275Cys",
"transcript": "ENST00000852382.1",
"protein_id": "ENSP00000522441.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 449,
"cds_start": 824,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852382.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000852383.1",
"protein_id": "ENSP00000522442.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 426,
"cds_start": 833,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852383.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000913758.1",
"protein_id": "ENSP00000583817.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 424,
"cds_start": 833,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913758.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"transcript": "ENST00000852380.1",
"protein_id": "ENSP00000522439.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 422,
"cds_start": 743,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852380.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"transcript": "ENST00000913759.1",
"protein_id": "ENSP00000583818.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 421,
"cds_start": 743,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913759.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "NM_001166588.3",
"protein_id": "NP_001160060.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 412,
"cds_start": 833,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166588.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "NM_001261418.2",
"protein_id": "NP_001248347.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 401,
"cds_start": 833,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261418.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Tyr98Cys",
"transcript": "ENST00000439363.5",
"protein_id": "ENSP00000396985.1",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 221,
"cds_start": 293,
"cds_end": null,
"cds_length": 666,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439363.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"transcript": "XM_047433499.1",
"protein_id": "XP_047289455.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 422,
"cds_start": 743,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433499.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"transcript": "XM_047433500.1",
"protein_id": "XP_047289456.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 371,
"cds_start": 743,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433500.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "XM_047433501.1",
"protein_id": "XP_047289457.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 323,
"cds_start": 446,
"cds_end": null,
"cds_length": 972,
"cdna_start": 593,
"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.656+17395A>G",
"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"
}
],
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"dbsnp": "rs199893632",
"frequency_reference_population": 0.000100361176,
"hom_count_reference_population": 0,
"allele_count_reference_population": 162,
"gnomad_exomes_af": 0.000104659,
"gnomad_genomes_af": 0.0000591017,
"gnomad_exomes_ac": 153,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15731719136238098,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020365.5",
"gene_symbol": "EIF2B3",
"hgnc_id": 3259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys"
}
],
"clinvar_disease": "Vanishing white matter disease,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Vanishing white matter disease|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}