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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: 17-63756495-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63756495&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63756495,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_020198.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "NM_020198.3",
"protein_id": "NP_064583.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225726.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020198.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000225726.10",
"protein_id": "ENSP00000225726.5",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225726.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "ENST00000878794.1",
"protein_id": "ENSP00000548853.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 488,
"cds_start": 826,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878794.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "ENST00000960677.1",
"protein_id": "ENSP00000630736.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 487,
"cds_start": 826,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960677.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000403162.7",
"protein_id": "ENSP00000384888.3",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403162.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878791.1",
"protein_id": "ENSP00000548850.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878791.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878793.1",
"protein_id": "ENSP00000548852.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878793.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878797.1",
"protein_id": "ENSP00000548856.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878797.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878798.1",
"protein_id": "ENSP00000548857.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878798.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878799.1",
"protein_id": "ENSP00000548858.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878799.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000916946.1",
"protein_id": "ENSP00000587005.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916946.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000960669.1",
"protein_id": "ENSP00000630728.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960669.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000960678.1",
"protein_id": "ENSP00000630737.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 483,
"cds_start": 811,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960678.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270*",
"transcript": "ENST00000878796.1",
"protein_id": "ENSP00000548855.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 482,
"cds_start": 808,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878796.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000878800.1",
"protein_id": "ENSP00000548859.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 482,
"cds_start": 811,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878800.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000960672.1",
"protein_id": "ENSP00000630731.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 482,
"cds_start": 811,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960672.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269*",
"transcript": "ENST00000916949.1",
"protein_id": "ENSP00000587008.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 481,
"cds_start": 805,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916949.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000582252.1",
"protein_id": "ENSP00000463577.1",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 480,
"cds_start": 811,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582252.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268*",
"transcript": "ENST00000878801.1",
"protein_id": "ENSP00000548860.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 480,
"cds_start": 802,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878801.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000960670.1",
"protein_id": "ENSP00000630729.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 479,
"cds_start": 811,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960670.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000960675.1",
"protein_id": "ENSP00000630734.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 458,
"cds_start": 811,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960675.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC47",
"gene_hgnc_id": 24856,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237*",
"transcript": "ENST00000960674.1",
"protein_id": "ENSP00000630733.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 449,
"cds_start": 709,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960674.1"
},
{
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],
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{
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],
"verdict": "Pathogenic",
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],
"clinvar_disease": " and woolly hair, liver dysfunction, pruritus,Global developmental delay with dysmorphic features,Trichohepatoneurodevelopmental syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Trichohepatoneurodevelopmental syndrome|Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}