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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: 10-76953918-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76953918&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNMA1",
"hgnc_id": 6284,
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001161352.2",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KCNMA1-AS1",
"hgnc_id": 51213,
"hgvs_c": "n.426-23692G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000458661.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.5071,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Generalized epilepsy-paroxysmal dyskinesia syndrome,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3501128852367401,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001161352.2",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000286628.14",
"protein_coding": true,
"protein_id": "NP_001154824.1",
"strand": false,
"transcript": "NM_001161352.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000286628.14",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161352.2",
"protein_coding": true,
"protein_id": "ENSP00000286628.8",
"strand": false,
"transcript": "ENST00000286628.14",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "D",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 3660,
"cds_start": 2193,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000626620.3",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2193C>A",
"hgvs_p": "p.Asp731Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485867.1",
"strand": false,
"transcript": "ENST00000626620.3",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "D",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2202,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000639406.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2202C>A",
"hgvs_p": "p.Asp734Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491732.1",
"strand": false,
"transcript": "ENST00000639406.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "D",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6194,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 3537,
"cds_start": 2193,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000286627.10",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2193C>A",
"hgvs_p": "p.Asp731Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286627.5",
"strand": false,
"transcript": "ENST00000286627.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "D",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000640807.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2043C>A",
"hgvs_p": "p.Asp681Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491555.1",
"strand": false,
"transcript": "ENST00000640807.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "D",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11400,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1788,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000604624.6",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.1788C>A",
"hgvs_p": "p.Asp596Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473714.2",
"strand": false,
"transcript": "ENST00000604624.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000639691.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "n.*1072C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491040.1",
"strand": false,
"transcript": "ENST00000639691.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000639851.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "n.2417C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000639851.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000639691.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "n.*1072C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491040.1",
"strand": false,
"transcript": "ENST00000639691.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 3867,
"cds_start": 2367,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000404771.8",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385717.3",
"strand": false,
"transcript": "ENST00000404771.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "D",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 3741,
"cds_start": 2376,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000639591.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2376C>A",
"hgvs_p": "p.Asp792Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492793.1",
"strand": false,
"transcript": "ENST00000639591.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1242,
"aa_ref": "D",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5425,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 3729,
"cds_start": 2388,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000640523.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2388C>A",
"hgvs_p": "p.Asp796Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491795.1",
"strand": false,
"transcript": "ENST00000640523.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "D",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 3723,
"cds_start": 2379,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000638759.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2379C>A",
"hgvs_p": "p.Asp793Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492632.1",
"strand": false,
"transcript": "ENST00000638759.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "D",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 3720,
"cds_start": 2376,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000638575.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2376C>A",
"hgvs_p": "p.Asp792Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492049.1",
"strand": false,
"transcript": "ENST00000638575.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "D",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 3720,
"cds_start": 2379,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000638848.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2379C>A",
"hgvs_p": "p.Asp793Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492414.1",
"strand": false,
"transcript": "ENST00000638848.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "D",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 3717,
"cds_start": 2214,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000640605.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2214C>A",
"hgvs_p": "p.Asp738Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491435.1",
"strand": false,
"transcript": "ENST00000640605.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000639544.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492075.1",
"strand": false,
"transcript": "ENST00000639544.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000457953.6",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2367C>A",
"hgvs_p": "p.Asp789Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396608.2",
"strand": false,
"transcript": "ENST00000457953.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1234,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 3705,
"cds_start": 2205,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000638606.1",
"gene_hgnc_id": 6284,
"gene_symbol": "KCNMA1",
"hgvs_c": "c.2205C>A",
"hgvs_p": "p.Asp735Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491981.1",
"strand": false,
"transcript": "ENST00000638606.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
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}