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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: 2-182935297-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182935297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NCKAP1",
"hgnc_id": 7666,
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Arg931Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_205842.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0889,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.36664867401123047,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20332,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2774,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_013436.5",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361354.9",
"protein_coding": true,
"protein_id": "NP_038464.1",
"strand": false,
"transcript": "NM_013436.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 20332,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2774,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000361354.9",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013436.5",
"protein_coding": true,
"protein_id": "ENSP00000355348.3",
"strand": false,
"transcript": "ENST00000361354.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "R",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 3405,
"cds_start": 2792,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000360982.2",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Arg931Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354251.2",
"strand": false,
"transcript": "ENST00000360982.2",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "R",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20350,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 3405,
"cds_start": 2792,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_205842.3",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Arg931Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_995314.1",
"strand": false,
"transcript": "NM_205842.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "R",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2789,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888539.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Arg930Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558598.1",
"strand": false,
"transcript": "ENST00000888539.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "R",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20344,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2786,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001437267.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424196.1",
"strand": false,
"transcript": "NM_001437267.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "R",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5793,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2786,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000703824.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515489.1",
"strand": false,
"transcript": "ENST00000703824.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20326,
"cdna_start": 3126,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001437266.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424195.1",
"strand": false,
"transcript": "NM_001437266.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 3021,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000703825.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515490.1",
"strand": false,
"transcript": "ENST00000703825.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 3170,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000939370.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609429.1",
"strand": false,
"transcript": "ENST00000939370.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 3012,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000939372.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609431.1",
"strand": false,
"transcript": "ENST00000939372.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "R",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 3104,
"cds_end": null,
"cds_length": 3366,
"cds_start": 2753,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000966159.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2753G>A",
"hgvs_p": "p.Arg918Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636218.1",
"strand": false,
"transcript": "ENST00000966159.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1109,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4399,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 3330,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888538.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2717G>A",
"hgvs_p": "p.Arg906Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558597.1",
"strand": false,
"transcript": "ENST00000888538.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "R",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2711,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966167.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2711G>A",
"hgvs_p": "p.Arg904Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636226.1",
"strand": false,
"transcript": "ENST00000966167.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 2927,
"cds_end": null,
"cds_length": 3288,
"cds_start": 2675,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888537.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2675G>A",
"hgvs_p": "p.Arg892Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558596.1",
"strand": false,
"transcript": "ENST00000888537.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4184,
"cdna_start": 2754,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888541.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2663G>A",
"hgvs_p": "p.Arg888Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558600.1",
"strand": false,
"transcript": "ENST00000888541.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 3021,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966160.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636219.1",
"strand": false,
"transcript": "ENST00000966160.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1082,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 2863,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2636,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888540.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2636G>A",
"hgvs_p": "p.Arg879Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558599.1",
"strand": false,
"transcript": "ENST00000888540.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1080,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 2986,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966162.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636221.1",
"strand": false,
"transcript": "ENST00000966162.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "R",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2555,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888536.1",
"gene_hgnc_id": 7666,
"gene_symbol": "NCKAP1",
"hgvs_c": "c.2555G>A",
"hgvs_p": "p.Arg852Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558595.1",
"strand": false,
"transcript": "ENST00000888536.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "R",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 2780,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2495,
"consequences": [
"missense_variant"
],
"exon_count": 29,
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