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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: 19-13208879-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13208879&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CACNA1A",
"hgnc_id": 1388,
"hgvs_c": "c.6675T>C",
"hgvs_p": "p.His2225His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_023035.3",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300728",
"hgnc_id": null,
"hgvs_c": "n.413+3456A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000773684.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 892603,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "19",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 1, 42, familial hemiplegic,Developmental and epileptic encephalopathy,Episodic ataxia type 2,Inborn genetic diseases,Migraine,Spinocerebellar ataxia type 6,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:11",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2506,
"aa_ref": "H",
"aa_start": 2219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8647,
"cdna_start": 6912,
"cds_end": null,
"cds_length": 7521,
"cds_start": 6657,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001127222.2",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6657T>C",
"hgvs_p": "p.His2219His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360228.11",
"protein_coding": true,
"protein_id": "NP_001120694.1",
"strand": false,
"transcript": "NM_001127222.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2506,
"aa_ref": "H",
"aa_start": 2219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8647,
"cdna_start": 6912,
"cds_end": null,
"cds_length": 7521,
"cds_start": 6657,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000360228.11",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6657T>C",
"hgvs_p": "p.His2219His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127222.2",
"protein_coding": true,
"protein_id": "ENSP00000353362.5",
"strand": false,
"transcript": "ENST00000360228.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2261,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8645,
"cdna_start": 6915,
"cds_end": null,
"cds_length": 6786,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001127221.2",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000638009.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120693.1",
"strand": false,
"transcript": "NM_001127221.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2261,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8645,
"cdna_start": 6915,
"cds_end": null,
"cds_length": 6786,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000638009.2",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001127221.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489913.1",
"strand": false,
"transcript": "ENST00000638009.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2512,
"aa_ref": "H",
"aa_start": 2225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7814,
"cdna_start": 6911,
"cds_end": null,
"cds_length": 7539,
"cds_start": 6675,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000638029.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6675T>C",
"hgvs_p": "p.His2225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489829.1",
"strand": false,
"transcript": "ENST00000638029.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2508,
"aa_ref": "H",
"aa_start": 2221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7569,
"cdna_start": 6694,
"cds_end": null,
"cds_length": 7527,
"cds_start": 6663,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000573710.7",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6663T>C",
"hgvs_p": "p.His2221His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460092.3",
"strand": false,
"transcript": "ENST00000573710.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 6660,
"cds_end": null,
"cds_length": 7524,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000635727.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490001.1",
"strand": false,
"transcript": "ENST00000635727.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8648,
"cdna_start": 6916,
"cds_end": null,
"cds_length": 7524,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000637769.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489778.1",
"strand": false,
"transcript": "ENST00000637769.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2495,
"aa_ref": "H",
"aa_start": 2208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7500,
"cdna_start": 6624,
"cds_end": null,
"cds_length": 7488,
"cds_start": 6624,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000636012.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6624T>C",
"hgvs_p": "p.His2208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490223.1",
"strand": false,
"transcript": "ENST00000636012.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2494,
"aa_ref": "H",
"aa_start": 2207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8559,
"cdna_start": 6876,
"cds_end": null,
"cds_length": 7485,
"cds_start": 6621,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000587525.6",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6621T>C",
"hgvs_p": "p.His2207His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467729.2",
"strand": false,
"transcript": "ENST00000587525.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2460,
"aa_ref": "H",
"aa_start": 2173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8340,
"cdna_start": 6754,
"cds_end": null,
"cds_length": 7383,
"cds_start": 6519,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000637736.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6519T>C",
"hgvs_p": "p.His2173His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489861.1",
"strand": false,
"transcript": "ENST00000637736.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2302,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8137,
"cdna_start": 6708,
"cds_end": null,
"cds_length": 6909,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000636389.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489992.1",
"strand": false,
"transcript": "ENST00000636389.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2266,
"aa_ref": "H",
"aa_start": 2225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7809,
"cdna_start": 6911,
"cds_end": null,
"cds_length": 6801,
"cds_start": 6675,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000637432.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6675T>C",
"hgvs_p": "p.His2225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490617.1",
"strand": false,
"transcript": "ENST00000637432.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2263,
"aa_ref": "H",
"aa_start": 2222,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6792,
"cdna_start": 6666,
"cds_end": null,
"cds_length": 6792,
"cds_start": 6666,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000636549.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6666T>C",
"hgvs_p": "p.His2222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490578.1",
"strand": false,
"transcript": "ENST00000636549.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2262,
"aa_ref": "H",
"aa_start": 2221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6847,
"cdna_start": 6694,
"cds_end": null,
"cds_length": 6789,
"cds_start": 6663,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000637927.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6663T>C",
"hgvs_p": "p.His2221His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489715.1",
"strand": false,
"transcript": "ENST00000637927.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2261,
"aa_ref": "H",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8657,
"cdna_start": 6931,
"cds_end": null,
"cds_length": 6786,
"cds_start": 6660,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000635895.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6660T>C",
"hgvs_p": "p.His2220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490323.1",
"strand": false,
"transcript": "ENST00000635895.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2249,
"aa_ref": "H",
"aa_start": 2208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7135,
"cdna_start": 6624,
"cds_end": null,
"cds_length": 6750,
"cds_start": 6624,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000637276.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "c.6624T>C",
"hgvs_p": "p.His2208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489777.1",
"strand": false,
"transcript": "ENST00000637276.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000636768.2",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "n.*923T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490190.2",
"strand": false,
"transcript": "ENST00000636768.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000713789.1",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "n.*1836T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519091.1",
"strand": false,
"transcript": "ENST00000713789.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000636768.2",
"gene_hgnc_id": 1388,
"gene_symbol": "CACNA1A",
"hgvs_c": "n.*923T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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