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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: 12-21828958-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21828958&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005691.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"hgvs_c": "n.898C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "XR_007063241.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000257022",
"hgnc_id": null,
"hgvs_c": "n.215+1534C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000539874.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.23000000417232513,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_020297.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261200.9",
"protein_coding": true,
"protein_id": "NP_064693.2",
"strand": false,
"transcript": "NM_020297.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000261200.9",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020297.4",
"protein_coding": true,
"protein_id": "ENSP00000261200.4",
"strand": false,
"transcript": "ENST00000261200.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 4092,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001377273.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364202.1",
"strand": false,
"transcript": "NM_001377273.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_005691.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005682.2",
"strand": false,
"transcript": "NM_005691.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000261201.10",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261201.4",
"strand": false,
"transcript": "ENST00000261201.10",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7612,
"cdna_start": 5157,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879186.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549245.1",
"strand": false,
"transcript": "ENST00000879186.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6803,
"cdna_start": 4464,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000879187.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549246.1",
"strand": false,
"transcript": "ENST00000879187.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6499,
"cdna_start": 3918,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879188.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549247.1",
"strand": false,
"transcript": "ENST00000879188.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879190.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549249.1",
"strand": false,
"transcript": "ENST00000879190.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 4000,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879191.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549250.1",
"strand": false,
"transcript": "ENST00000879191.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7163,
"cdna_start": 3921,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3669,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000944975.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3669G>C",
"hgvs_p": "p.Thr1223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615034.1",
"strand": false,
"transcript": "ENST00000944975.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "T",
"aa_start": 1222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 3803,
"cds_end": null,
"cds_length": 4647,
"cds_start": 3666,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000944976.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3666G>C",
"hgvs_p": "p.Thr1222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615035.1",
"strand": false,
"transcript": "ENST00000944976.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "T",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3879,
"cds_end": null,
"cds_length": 4611,
"cds_start": 3630,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000879185.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3630G>C",
"hgvs_p": "p.Thr1210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549244.1",
"strand": false,
"transcript": "ENST00000879185.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "T",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6450,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 4611,
"cds_start": 3630,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879189.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3630G>C",
"hgvs_p": "p.Thr1210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549248.1",
"strand": false,
"transcript": "ENST00000879189.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "T",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": 4050,
"cds_end": null,
"cds_length": 4611,
"cds_start": 3630,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879192.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3630G>C",
"hgvs_p": "p.Thr1210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549251.1",
"strand": false,
"transcript": "ENST00000879192.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1535,
"aa_ref": "T",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3989,
"cds_end": null,
"cds_length": 4608,
"cds_start": 3627,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000944977.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3627G>C",
"hgvs_p": "p.Thr1209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615036.1",
"strand": false,
"transcript": "ENST00000944977.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "T",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6576,
"cdna_start": 3869,
"cds_end": null,
"cds_length": 4599,
"cds_start": 3618,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000684084.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3618G>C",
"hgvs_p": "p.Thr1206Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507859.1",
"strand": false,
"transcript": "ENST00000684084.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "T",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 3716,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3579,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000879193.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3579G>C",
"hgvs_p": "p.Thr1193Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549252.1",
"strand": false,
"transcript": "ENST00000879193.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1502,
"aa_ref": "T",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": 3713,
"cds_end": null,
"cds_length": 4509,
"cds_start": 3528,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000944978.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3528G>C",
"hgvs_p": "p.Thr1176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615037.1",
"strand": false,
"transcript": "ENST00000944978.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "T",
"aa_start": 1223,
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