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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: 15-32167993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=32167993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CHRNA7",
"hgnc_id": 1960,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Pro377Pro",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001190455.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301688",
"hgnc_id": null,
"hgvs_c": "n.624-2747G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000780853.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102724078",
"hgnc_id": null,
"hgvs_c": "n.915-1133G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007064559.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 3756,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1246,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0028790831565856934,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6149,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000746.6",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306901.9",
"protein_coding": true,
"protein_id": "NP_000737.1",
"strand": true,
"transcript": "NM_000746.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6149,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000306901.9",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000746.6",
"protein_coding": true,
"protein_id": "ENSP00000303727.2",
"strand": true,
"transcript": "ENST00000306901.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 920,
"cds_end": null,
"cds_length": 957,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000635884.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489834.1",
"strand": true,
"transcript": "ENST00000635884.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6039,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1143,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011521178.4",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519480.1",
"strand": true,
"transcript": "XM_011521178.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6236,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1131,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001190455.3",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Pro377Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177384.1",
"strand": true,
"transcript": "NM_001190455.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1131,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000454250.7",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Pro377Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407546.3",
"strand": true,
"transcript": "ENST00000454250.7",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1131,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675428.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Pro377Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502560.1",
"strand": true,
"transcript": "ENST00000675428.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965369.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635428.1",
"strand": true,
"transcript": "ENST00000965369.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1323,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000636603.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Pro286Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490513.1",
"strand": true,
"transcript": "ENST00000636603.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1323,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637033.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Pro286Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490227.1",
"strand": true,
"transcript": "ENST00000637033.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1272,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637183.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Pro269Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490365.1",
"strand": true,
"transcript": "ENST00000637183.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 229,
"aa_ref": "P",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 692,
"cdna_start": 523,
"cds_end": null,
"cds_length": 691,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638081.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Pro174Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490215.1",
"strand": true,
"transcript": "ENST00000638081.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 220,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 975,
"cds_end": null,
"cds_length": 665,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638106.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Pro167Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490413.1",
"strand": true,
"transcript": "ENST00000638106.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6498,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1461,
"cds_start": 996,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011521176.4",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Pro332Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519478.2",
"strand": true,
"transcript": "XM_011521176.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 441,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1326,
"cds_start": 861,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047432126.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Pro287Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288082.1",
"strand": true,
"transcript": "XM_047432126.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1323,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047432127.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Pro286Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288083.1",
"strand": true,
"transcript": "XM_047432127.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 401,
"aa_ref": "P",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6123,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1206,
"cds_start": 741,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011521177.3",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Pro247Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519479.1",
"strand": true,
"transcript": "XM_011521177.3",
"transcript_support_level": null
},
{
"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": 1788,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000437966.3",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "n.*545C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399087.3",
"strand": true,
"transcript": "ENST00000437966.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636245.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "n.739C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636245.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000636271.1",
"gene_hgnc_id": 1960,
"gene_symbol": "CHRNA7",
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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}
],
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"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
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}
]
}