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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: 8-131969174-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=131969174&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 131969174,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000254624.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.991+744C>A",
"hgvs_p": null,
"transcript": "NM_015137.6",
"protein_id": "NP_055952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": "ENST00000254624.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.991+744C>A",
"hgvs_p": null,
"transcript": "ENST00000254624.10",
"protein_id": "ENSP00000254624.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": "NM_015137.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "ENST00000519656.1",
"protein_id": "ENSP00000428086.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.1072+744C>A",
"hgvs_p": null,
"transcript": "ENST00000637848.1",
"protein_id": "ENSP00000490312.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.991+744C>A",
"hgvs_p": null,
"transcript": "NM_001323558.2",
"protein_id": "NP_001310487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 838,
"cds_start": -4,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "NM_001323553.2",
"protein_id": "NP_001310482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "NM_001323554.2",
"protein_id": "NP_001310483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "NM_001323555.2",
"protein_id": "NP_001310484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "NM_001323556.2",
"protein_id": "NP_001310485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.883+744C>A",
"hgvs_p": null,
"transcript": "NM_001323557.2",
"protein_id": "NP_001310486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "n.1280+744C>A",
"hgvs_p": null,
"transcript": "NR_136615.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "n.1211+744C>A",
"hgvs_p": null,
"transcript": "NR_136616.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.1060+744C>A",
"hgvs_p": null,
"transcript": "XM_047421603.1",
"protein_id": "XP_047277559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": -4,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"hgvs_c": "c.1060+744C>A",
"hgvs_p": null,
"transcript": "XM_047421604.1",
"protein_id": "XP_047277560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFR3A",
"gene_hgnc_id": 28970,
"dbsnp": "rs10505583",
"frequency_reference_population": 0.000006581632,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658163,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.738,
"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": "ENST00000254624.10",
"gene_symbol": "EFR3A",
"hgnc_id": 28970,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.991+744C>A",
"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
}