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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: 15-26883219-TC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=26883219&ref=TC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GABRA5",
"hgnc_id": 4079,
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_000810.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GABRB3",
"hgnc_id": 4083,
"hgvs_c": "c.200+56017_200+56018delGAinsCT",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000541819.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000810.4",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335625.10",
"protein_coding": true,
"protein_id": "NP_000801.1",
"strand": true,
"transcript": "NM_000810.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335625.10",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000810.4",
"protein_coding": true,
"protein_id": "ENSP00000335592.5",
"strand": true,
"transcript": "ENST00000335625.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 529,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5934,
"cdna_start": null,
"cds_end": null,
"cds_length": 1590,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541819.6",
"gene_hgnc_id": 4083,
"gene_symbol": "GABRB3",
"hgvs_c": "c.200+56017_200+56018delGAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442408.2",
"strand": false,
"transcript": "ENST00000541819.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001165037.2",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158509.1",
"strand": true,
"transcript": "NM_001165037.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355395.9",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347557.5",
"strand": true,
"transcript": "ENST00000355395.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400081.7",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382953.3",
"strand": true,
"transcript": "ENST00000400081.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879566.1",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549625.1",
"strand": true,
"transcript": "ENST00000879566.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951856.1",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621915.1",
"strand": true,
"transcript": "ENST00000951856.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 165,
"aa_ref": "S",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": 216,
"cds_end": null,
"cds_length": 499,
"cds_start": 166,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555182.5",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.166_167delTCinsAG",
"hgvs_p": "p.57",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450653.1",
"strand": true,
"transcript": "ENST00000555182.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 415,
"cds_end": null,
"cds_length": 497,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554599.5",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450717.1",
"strand": true,
"transcript": "ENST00000554599.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 147,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 544,
"cds_end": null,
"cds_length": 446,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554596.5",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450806.1",
"strand": true,
"transcript": "ENST00000554596.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 84,
"aa_ref": "S",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": 479,
"cds_end": null,
"cds_length": 257,
"cds_start": 166,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554083.1",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.166_167delTCinsAG",
"hgvs_p": "p.57",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450529.1",
"strand": true,
"transcript": "ENST00000554083.1",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005268258.3",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268315.1",
"strand": true,
"transcript": "XM_005268258.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1389,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720459.3",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720522.1",
"strand": true,
"transcript": "XM_006720459.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 306,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7434,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 921,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022055.2",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877544.1",
"strand": true,
"transcript": "XM_017022055.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7024,
"cdna_start": 657,
"cds_end": null,
"cds_length": 921,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022056.2",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877545.1",
"strand": true,
"transcript": "XM_017022056.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 451,
"cds_end": null,
"cds_length": 921,
"cds_start": 262,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432338.1",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288294.1",
"strand": true,
"transcript": "XM_047432338.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 306,
"aa_ref": "S",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7053,
"cdna_start": 686,
"cds_end": null,
"cds_length": 921,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432339.1",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.262_263delTCinsAG",
"hgvs_p": "p.89",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288295.1",
"strand": true,
"transcript": "XM_047432339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557449.5",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "n.521+2252_521+2253delTCinsAG",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000557449.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 85,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": 258,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554038.5",
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"hgvs_c": "c.*4_*5delTCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451527.1",
"strand": true,
"transcript": "ENST00000554038.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4079,
"gene_symbol": "GABRA5",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
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}
]
}