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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: 7-158650893-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158650893&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NCAPG2",
"hgnc_id": 21904,
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001281933.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1602,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13551050424575806,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3134,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_017760.7",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3134,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000356309.8",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5253,
"cdna_start": 3128,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000409339.3",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": 21,
"exon_rank_end": null,
"feature": "ENST00000467785.5",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "n.2858G>T",
"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": "L",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 3134,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001281933.2",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001281932.2",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000409423.5",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 3237,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000909184.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 3222,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909185.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7154,
"cdna_start": 3294,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000919067.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 4132,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3014,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000919077.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.3014G>T",
"hgvs_p": "p.Arg1005Leu",
"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": "L",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 3091,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2969,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909181.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2969G>T",
"hgvs_p": "p.Arg990Leu",
"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": "L",
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"aa_length": 1105,
"aa_ref": "R",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3787,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2900,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909183.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2900G>T",
"hgvs_p": "p.Arg967Leu",
"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": "L",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "R",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2897,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000909179.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2897G>T",
"hgvs_p": "p.Arg966Leu",
"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": "L",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "R",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 2986,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000919069.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2861G>T",
"hgvs_p": "p.Arg954Leu",
"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": "L",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "R",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000919075.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2861G>T",
"hgvs_p": "p.Arg954Leu",
"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": "L",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 2962,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2840,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000909180.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2840G>T",
"hgvs_p": "p.Arg947Leu",
"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": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2840,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000919071.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2840G>T",
"hgvs_p": "p.Arg947Leu",
"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": "L",
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"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 2982,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2840,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000919073.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2840G>T",
"hgvs_p": "p.Arg947Leu",
"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": "L",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2945,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000909182.1",
"gene_hgnc_id": 21904,
"gene_symbol": "NCAPG2",
"hgvs_c": "c.2825G>T",
"hgvs_p": "p.Arg942Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579241.1",
"strand": false,
"transcript": "ENST00000909182.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "R",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2726,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000919070.1",
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