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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: 16-58503823-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58503823&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDRG4",
"hgnc_id": 14466,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001378332.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 122,
"alphamissense_prediction": null,
"alphamissense_score": 0.9958,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "16",
"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": 0.9452037811279297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 352,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1059,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001242835.2",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Gly16Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000570248.6",
"protein_coding": true,
"protein_id": "NP_001229764.1",
"strand": true,
"transcript": "NM_001242835.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 352,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1059,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000570248.6",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Gly16Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242835.2",
"protein_coding": true,
"protein_id": "ENSP00000457659.1",
"strand": true,
"transcript": "ENST00000570248.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 391,
"aa_ref": "G",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1176,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394282.8",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Gly68Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377823.4",
"strand": true,
"transcript": "ENST00000394282.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 371,
"aa_ref": "G",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1116,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258187.9",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258187.5",
"strand": true,
"transcript": "ENST00000258187.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 249,
"cds_end": null,
"cds_length": 1020,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566192.5",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Gly16Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454410.1",
"strand": true,
"transcript": "ENST00000566192.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1305,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378332.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365261.1",
"strand": true,
"transcript": "NM_001378332.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1269,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378333.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Gly86Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365262.1",
"strand": true,
"transcript": "NM_001378333.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 421,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1266,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378334.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365263.1",
"strand": true,
"transcript": "NM_001378334.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 409,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1230,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378335.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Gly86Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365264.1",
"strand": true,
"transcript": "NM_001378335.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1215,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378336.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Gly68Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365265.1",
"strand": true,
"transcript": "NM_001378336.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 402,
"aa_ref": "G",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 346,
"cds_end": null,
"cds_length": 1209,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378337.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Gly79Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365266.1",
"strand": true,
"transcript": "NM_001378337.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 402,
"aa_ref": "G",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1209,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378338.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365267.1",
"strand": true,
"transcript": "NM_001378338.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 401,
"aa_ref": "G",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1206,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378339.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Gly78Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365268.1",
"strand": true,
"transcript": "NM_001378339.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 401,
"aa_ref": "G",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1206,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378340.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Gly78Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365269.1",
"strand": true,
"transcript": "NM_001378340.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 397,
"aa_ref": "G",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1194,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378341.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Gly61Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365270.1",
"strand": true,
"transcript": "NM_001378341.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 391,
"aa_ref": "G",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1176,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001130487.2",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Gly68Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123959.1",
"strand": true,
"transcript": "NM_001130487.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 389,
"aa_ref": "G",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1170,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378342.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365271.1",
"strand": true,
"transcript": "NM_001378342.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 384,
"aa_ref": "G",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1155,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378343.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Gly61Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365272.1",
"strand": true,
"transcript": "NM_001378343.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 384,
"aa_ref": "G",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 249,
"cds_end": null,
"cds_length": 1155,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378345.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365274.1",
"strand": true,
"transcript": "NM_001378345.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1149,
"cds_start": 137,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378344.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Gly46Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365273.1",
"strand": true,
"transcript": "NM_001378344.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 374,
"aa_ref": "G",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1125,
"cds_start": 137,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889969.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Gly46Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560028.1",
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]
}