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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: 10-101827929-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101827929&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNIP2",
"hgnc_id": 15522,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014591.5",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KCNIP2-AS1",
"hgnc_id": 48680,
"hgvs_c": "n.560C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000412353.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 215,
"alphamissense_prediction": null,
"alphamissense_score": 0.085,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13681665062904358,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 894,
"cds_end": null,
"cds_length": 813,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_173191.3",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356640.7",
"protein_coding": true,
"protein_id": "NP_775283.1",
"strand": false,
"transcript": "NM_173191.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 894,
"cds_end": null,
"cds_length": 813,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000356640.7",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173191.3",
"protein_coding": true,
"protein_id": "ENSP00000349055.2",
"strand": false,
"transcript": "ENST00000356640.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 707,
"cds_end": null,
"cds_length": 858,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000461105.5",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420040.1",
"strand": false,
"transcript": "ENST00000461105.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 960,
"cds_end": null,
"cds_length": 759,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358038.7",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350733.3",
"strand": false,
"transcript": "ENST00000358038.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 227,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": 533,
"cds_end": null,
"cds_length": 684,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000353068.7",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341624.3",
"strand": false,
"transcript": "ENST00000353068.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 225,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 559,
"cds_end": null,
"cds_length": 678,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000348850.9",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000239118.6",
"strand": false,
"transcript": "ENST00000348850.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 663,
"cdna_start": 512,
"cds_end": null,
"cds_length": 663,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000343195.8",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344169.4",
"strand": false,
"transcript": "ENST00000343195.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 184,
"aa_ref": "R",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": 404,
"cds_end": null,
"cds_length": 555,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000239117.3",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000239117.3",
"strand": false,
"transcript": "ENST00000239117.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 177,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 383,
"cds_end": null,
"cds_length": 534,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000434163.5",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411679.1",
"strand": false,
"transcript": "ENST00000434163.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 939,
"cds_end": null,
"cds_length": 858,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_014591.5",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055406.2",
"strand": false,
"transcript": "NM_014591.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 971,
"cds_end": null,
"cds_length": 834,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853594.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523653.1",
"strand": false,
"transcript": "ENST00000853594.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 894,
"cds_end": null,
"cds_length": 810,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945932.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615991.1",
"strand": false,
"transcript": "ENST00000945932.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 266,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 984,
"cds_end": null,
"cds_length": 801,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945924.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615983.1",
"strand": false,
"transcript": "ENST00000945924.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 865,
"cds_end": null,
"cds_length": 801,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945939.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615998.1",
"strand": false,
"transcript": "ENST00000945939.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 258,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 852,
"cds_end": null,
"cds_length": 777,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945938.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615997.1",
"strand": false,
"transcript": "ENST00000945938.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 832,
"cds_end": null,
"cds_length": 762,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853595.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523654.1",
"strand": false,
"transcript": "ENST00000853595.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 252,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 840,
"cds_end": null,
"cds_length": 759,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_173192.3",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775284.1",
"strand": false,
"transcript": "NM_173192.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 857,
"cds_end": null,
"cds_length": 756,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945928.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615987.1",
"strand": false,
"transcript": "ENST00000945928.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 248,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 833,
"cds_end": null,
"cds_length": 747,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945929.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Arg199Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615988.1",
"strand": false,
"transcript": "ENST00000945929.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 248,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 826,
"cds_end": null,
"cds_length": 747,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945930.1",
"gene_hgnc_id": 15522,
"gene_symbol": "KCNIP2",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Arg199Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615989.1",
"strand": false,
"transcript": "ENST00000945930.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 244,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 848,
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