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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: 7-158646471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158646471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NCAPG2",
"hgnc_id": 21904,
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001281933.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 3941,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "NCAPG2-related disorder,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006000000052154064,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_017760.7",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356309.8",
"protein_coding": true,
"protein_id": "NP_060230.5",
"strand": false,
"transcript": "NM_017760.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000356309.8",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017760.7",
"protein_coding": true,
"protein_id": "ENSP00000348657.3",
"strand": false,
"transcript": "ENST00000356309.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5253,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000409339.3",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387007.3",
"strand": false,
"transcript": "ENST00000409339.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000467785.5",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "n.3012G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000467785.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001281933.2",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268862.1",
"strand": false,
"transcript": "NM_001281933.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001281932.2",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268861.1",
"strand": false,
"transcript": "NM_001281932.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000409423.5",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386569.1",
"strand": false,
"transcript": "ENST00000409423.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 3391,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000909184.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579243.1",
"strand": false,
"transcript": "ENST00000909184.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000909185.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579244.1",
"strand": false,
"transcript": "ENST00000909185.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7154,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000919067.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589126.1",
"strand": false,
"transcript": "ENST00000919067.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 4286,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3168,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000919077.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Ser1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589136.1",
"strand": false,
"transcript": "ENST00000919077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "S",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 3245,
"cds_end": null,
"cds_length": 3387,
"cds_start": 3123,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000909181.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3123G>A",
"hgvs_p": "p.Ser1041Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579240.1",
"strand": false,
"transcript": "ENST00000909181.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1105,
"aa_ref": "S",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3787,
"cdna_start": 3174,
"cds_end": null,
"cds_length": 3318,
"cds_start": 3054,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000909183.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3054G>A",
"hgvs_p": "p.Ser1018Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579242.1",
"strand": false,
"transcript": "ENST00000909183.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "S",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 3173,
"cds_end": null,
"cds_length": 3315,
"cds_start": 3051,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909179.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3051G>A",
"hgvs_p": "p.Ser1017Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579238.1",
"strand": false,
"transcript": "ENST00000909179.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "S",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3743,
"cdna_start": 3129,
"cds_end": null,
"cds_length": 3315,
"cds_start": 3051,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000919076.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3051G>A",
"hgvs_p": "p.Ser1017Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589135.1",
"strand": false,
"transcript": "ENST00000919076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "S",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 3140,
"cds_end": null,
"cds_length": 3279,
"cds_start": 3015,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000919069.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Ser1005Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589128.1",
"strand": false,
"transcript": "ENST00000919069.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "S",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 3279,
"cds_start": 3015,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000919075.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Ser1005Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589134.1",
"strand": false,
"transcript": "ENST00000919075.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1085,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 3116,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909180.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2994G>A",
"hgvs_p": "p.Ser998Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579239.1",
"strand": false,
"transcript": "ENST00000909180.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "S",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000919071.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2994G>A",
"hgvs_p": "p.Ser998Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589130.1",
"strand": false,
"transcript": "ENST00000919071.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "S",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000919073.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2994G>A",
"hgvs_p": "p.Ser998Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589132.1",
"strand": false,
"transcript": "ENST00000919073.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "S",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 3084,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
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]
}