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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: 19-13909821-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13909821&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13909821,
"ref": "A",
"alt": "G",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_017721.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "NM_017721.5",
"protein_id": "NP_060191.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318003.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000318003.11",
"protein_id": "ENSP00000313601.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017721.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318003.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000589606.5",
"protein_id": "ENSP00000467526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589606.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870936.1",
"protein_id": "ENSP00000540995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": null,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870939.1",
"protein_id": "ENSP00000540998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870940.1",
"protein_id": "ENSP00000540999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870940.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870935.1",
"protein_id": "ENSP00000540994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": null,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870935.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870942.1",
"protein_id": "ENSP00000541001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870932.1",
"protein_id": "ENSP00000540991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": null,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "NM_001411138.1",
"protein_id": "NP_001398067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870926.1",
"protein_id": "ENSP00000540985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870928.1",
"protein_id": "ENSP00000540987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870924.1",
"protein_id": "ENSP00000540983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": null,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870925.1",
"protein_id": "ENSP00000540984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870927.1",
"protein_id": "ENSP00000540986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870930.1",
"protein_id": "ENSP00000540989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870931.1",
"protein_id": "ENSP00000540990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870934.1",
"protein_id": "ENSP00000540993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": null,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870934.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000870933.1",
"protein_id": "ENSP00000540992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000952980.1",
"protein_id": "ENSP00000623039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.61-2A>G",
"hgvs_p": null,
"transcript": "ENST00000952983.1",
"protein_id": "ENSP00000623042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
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"splice_prediction_selected": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
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"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "NM_017721.5",
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],
"clinvar_disease": " autosomal recessive 3,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:4",
"phenotype_combined": "Inborn genetic diseases|Intellectual disability, autosomal recessive 3|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}