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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: 19-13926700-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13926700&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CC2D1A",
"hgnc_id": 30237,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_017721.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 1300,
"alphamissense_prediction": null,
"alphamissense_score": 0.1904,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal recessive 3,CC2D1A-related disorder,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08285531401634216,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_017721.5",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318003.11",
"protein_coding": true,
"protein_id": "NP_060191.3",
"strand": true,
"transcript": "NM_017721.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000318003.11",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017721.5",
"protein_coding": true,
"protein_id": "ENSP00000313601.6",
"strand": true,
"transcript": "ENST00000318003.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000589606.5",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467526.1",
"strand": true,
"transcript": "ENST00000589606.5",
"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": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000586955.5",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465376.1",
"strand": true,
"transcript": "ENST00000586955.5",
"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": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000586955.5",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465376.1",
"strand": true,
"transcript": "ENST00000586955.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 982,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2949,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870936.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540995.1",
"strand": true,
"transcript": "ENST00000870936.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3511,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870939.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540998.1",
"strand": true,
"transcript": "ENST00000870939.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870940.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Arg695Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540999.1",
"strand": true,
"transcript": "ENST00000870940.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2063,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870935.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540994.1",
"strand": true,
"transcript": "ENST00000870935.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 953,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870942.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541001.1",
"strand": true,
"transcript": "ENST00000870942.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 952,
"aa_ref": "R",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870932.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540991.1",
"strand": true,
"transcript": "ENST00000870932.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001411138.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398067.1",
"strand": true,
"transcript": "NM_001411138.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870926.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540985.1",
"strand": true,
"transcript": "ENST00000870926.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 949,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3575,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870928.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540987.1",
"strand": true,
"transcript": "ENST00000870928.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870924.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540983.1",
"strand": true,
"transcript": "ENST00000870924.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870925.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540984.1",
"strand": true,
"transcript": "ENST00000870925.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870927.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540986.1",
"strand": true,
"transcript": "ENST00000870927.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870930.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540989.1",
"strand": true,
"transcript": "ENST00000870930.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870931.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540990.1",
"strand": true,
"transcript": "ENST00000870931.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2018,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870934.1",
"gene_hgnc_id": 30237,
"gene_symbol": "CC2D1A",
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540993.1",
"strand": true,
"transcript": "ENST00000870934.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 940,
"aa_ref": "R",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 2823,
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]
}