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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: 22-31488419-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31488419&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31488419,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000330125.10",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "NM_019843.4",
"protein_id": "NP_062817.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": "ENST00000330125.10",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000330125.10",
"protein_id": "ENSP00000328103.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": "NM_019843.4",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000397525.5",
"protein_id": "ENSP00000380659.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3695,
"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": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000344710.9",
"protein_id": "ENSP00000342927.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3115,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000397518.5",
"protein_id": "ENSP00000380652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 251,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000397520.1",
"protein_id": "ENSP00000380654.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 374,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "NM_001164501.2",
"protein_id": "NP_001157973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3664,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000397523.5",
"protein_id": "ENSP00000380657.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"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": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "NM_001164502.2",
"protein_id": "NP_001157974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3125,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "ENST00000423097.5",
"protein_id": "ENSP00000405086.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DRG1",
"gene_hgnc_id": 3029,
"hgvs_c": "n.165-19836T>C",
"hgvs_p": null,
"transcript": "ENST00000548143.1",
"protein_id": "ENSP00000448252.1",
"transcript_support_level": 2,
"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": 338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 19,
"intron_rank": 2,
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"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.219+204A>G",
"hgvs_p": null,
"transcript": "XM_006724281.5",
"protein_id": "XP_006724344.3",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"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": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.201+204A>G",
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"transcript": "XM_005261688.4",
"protein_id": "XP_005261745.2",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 2,
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"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.201+204A>G",
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"transcript": "XM_011530280.3",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "XM_005261686.4",
"protein_id": "XP_005261743.1",
"transcript_support_level": null,
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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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.96+204A>G",
"hgvs_p": null,
"transcript": "XM_005261687.4",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
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"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "n.312+204A>G",
"hgvs_p": null,
"transcript": "XR_001755264.3",
"protein_id": null,
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"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "n.312+204A>G",
"hgvs_p": null,
"transcript": "XR_007067977.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "n.272+204A>G",
"hgvs_p": null,
"transcript": "XR_007067978.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "n.272+204A>G",
"hgvs_p": null,
"transcript": "XR_007067979.1",
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"feature": null
}
],
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"dbsnp": "rs7289941",
"frequency_reference_population": 0.45934156,
"hom_count_reference_population": 16407,
"allele_count_reference_population": 69819,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.459342,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 69819,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16407,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.381,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000330125.10",
"gene_symbol": "EIF4ENIF1",
"hgnc_id": 16687,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.96+204A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000548143.1",
"gene_symbol": "DRG1",
"hgnc_id": 3029,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.165-19836T>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
}