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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: 11-6478911-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6478911&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARFIP2",
"hgnc_id": 17160,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Val155Met",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001242854.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.6917,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8389195203781128,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376558.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396777.8",
"protein_coding": true,
"protein_id": "NP_001363487.1",
"strand": false,
"transcript": "NM_001376558.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396777.8",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376558.2",
"protein_coding": true,
"protein_id": "ENSP00000379998.3",
"strand": false,
"transcript": "ENST00000396777.8",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 448,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000254584.6",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000254584.2",
"strand": false,
"transcript": "ENST00000254584.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 374,
"aa_ref": "V",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1125,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242854.3",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Val155Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229783.1",
"strand": false,
"transcript": "NM_001242854.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 374,
"aa_ref": "V",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1125,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000614314.4",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Val155Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484121.1",
"strand": false,
"transcript": "ENST00000614314.4",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 374,
"aa_ref": "V",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1125,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860045.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Val155Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530104.1",
"strand": false,
"transcript": "ENST00000860045.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 348,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1047,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860048.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530107.1",
"strand": false,
"transcript": "ENST00000860048.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 346,
"aa_ref": "V",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1041,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931133.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Val127Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601192.1",
"strand": false,
"transcript": "ENST00000931133.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_012402.5",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036534.1",
"strand": false,
"transcript": "NM_012402.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860047.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530106.1",
"strand": false,
"transcript": "ENST00000860047.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860049.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530108.1",
"strand": false,
"transcript": "ENST00000860049.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860052.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530111.1",
"strand": false,
"transcript": "ENST00000860052.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1026,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860053.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530112.1",
"strand": false,
"transcript": "ENST00000860053.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1023,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370406.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357335.1",
"strand": false,
"transcript": "NM_001370406.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1023,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376559.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363488.1",
"strand": false,
"transcript": "NM_001376559.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1023,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860051.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530110.1",
"strand": false,
"transcript": "ENST00000860051.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1023,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931131.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601190.1",
"strand": false,
"transcript": "ENST00000931131.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 339,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1020,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376560.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363489.1",
"strand": false,
"transcript": "NM_001376560.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1011,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370409.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357338.1",
"strand": false,
"transcript": "NM_001370409.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1011,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370411.2",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357340.1",
"strand": false,
"transcript": "NM_001370411.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1011,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860044.1",
"gene_hgnc_id": 17160,
"gene_symbol": "ARFIP2",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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{
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{
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],
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"effect": "missense_variant",
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"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
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}
]
}