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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: 4-93658489-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=93658489&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 93658489,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000282020.9",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2360+32054G>A",
"hgvs_p": null,
"transcript": "NM_001510.4",
"protein_id": "NP_001501.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": "ENST00000282020.9",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2360+32054G>A",
"hgvs_p": null,
"transcript": "ENST00000282020.9",
"protein_id": "ENSP00000282020.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": "NM_001510.4",
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2117+32054G>A",
"hgvs_p": null,
"transcript": "ENST00000611049.4",
"protein_id": "ENSP00000483084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4844,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2075+32054G>A",
"hgvs_p": null,
"transcript": "ENST00000510992.5",
"protein_id": "ENSP00000421257.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2739,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2360+32054G>A",
"hgvs_p": null,
"transcript": "NM_001440459.1",
"protein_id": "NP_001427388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7034,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2075+32054G>A",
"hgvs_p": null,
"transcript": "NM_001286838.1",
"protein_id": "NP_001273767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5055,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2444+32054G>A",
"hgvs_p": null,
"transcript": "XM_011531893.3",
"protein_id": "XP_011530195.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11587,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2408+32054G>A",
"hgvs_p": null,
"transcript": "XM_024454024.2",
"protein_id": "XP_024309792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": -4,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5831,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2396+32054G>A",
"hgvs_p": null,
"transcript": "XM_017008118.2",
"protein_id": "XP_016863607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11539,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2228+32054G>A",
"hgvs_p": null,
"transcript": "XM_017008119.2",
"protein_id": "XP_016863608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5124,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2444+32054G>A",
"hgvs_p": null,
"transcript": "XM_017008120.3",
"protein_id": "XP_016863609.1",
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2396+32054G>A",
"hgvs_p": null,
"transcript": "XM_047450132.1",
"protein_id": "XP_047306088.1",
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"aa_start": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1676+32054G>A",
"hgvs_p": null,
"transcript": "XM_011531894.3",
"protein_id": "XP_011530196.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1451+32054G>A",
"hgvs_p": null,
"transcript": "XM_047450134.1",
"protein_id": "XP_047306090.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1451+32054G>A",
"hgvs_p": null,
"transcript": "XM_047450135.1",
"protein_id": "XP_047306091.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "GRID2",
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"hgvs_c": "c.1451+32054G>A",
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"transcript": "XM_047450136.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
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"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1403+32054G>A",
"hgvs_p": null,
"transcript": "XM_024454025.2",
"protein_id": "XP_024309793.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1361+32054G>A",
"hgvs_p": null,
"transcript": "XM_047450137.1",
"protein_id": "XP_047306093.1",
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"dbsnp": "rs1972860",
"frequency_reference_population": 0.39883852,
"hom_count_reference_population": 13191,
"allele_count_reference_population": 60574,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.398839,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 60574,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 13191,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.315,
"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": "ENST00000282020.9",
"gene_symbol": "GRID2",
"hgnc_id": 4576,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2360+32054G>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
}