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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: 16-10430802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10430802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATF7IP2",
"hgnc_id": 20397,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_024997.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.1036,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"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": "Benign",
"computational_score_selected": 0.055778682231903076,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 485,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393719.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000562102.6",
"protein_coding": true,
"protein_id": "NP_001380648.1",
"strand": true,
"transcript": "NM_001393719.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 485,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562102.6",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393719.1",
"protein_coding": true,
"protein_id": "ENSP00000457731.2",
"strand": true,
"transcript": "ENST00000562102.6",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 208,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000356427.2",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348799.2",
"strand": true,
"transcript": "ENST00000356427.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 409,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000396560.6",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379808.2",
"strand": true,
"transcript": "ENST00000396560.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000568027.5",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "n.182C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455259.1",
"strand": true,
"transcript": "ENST00000568027.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3702,
"cdna_start": 446,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001352120.2",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339049.1",
"strand": true,
"transcript": "NM_001352120.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 403,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024997.5",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079273.2",
"strand": true,
"transcript": "NM_024997.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 471,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876243.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546302.1",
"strand": true,
"transcript": "ENST00000876243.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 605,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876244.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546303.1",
"strand": true,
"transcript": "ENST00000876244.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": 566,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876245.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546304.1",
"strand": true,
"transcript": "ENST00000876245.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 747,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876246.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546305.1",
"strand": true,
"transcript": "ENST00000876246.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 610,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876247.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546306.1",
"strand": true,
"transcript": "ENST00000876247.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 374,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914621.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584680.1",
"strand": true,
"transcript": "ENST00000914621.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 507,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914622.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584681.1",
"strand": true,
"transcript": "ENST00000914622.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 592,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914623.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584682.1",
"strand": true,
"transcript": "ENST00000914623.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 605,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914624.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584683.1",
"strand": true,
"transcript": "ENST00000914624.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 254,
"cds_end": null,
"cds_length": 2049,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000950976.1",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621035.1",
"strand": true,
"transcript": "ENST00000950976.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1632,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256160.3",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243089.1",
"strand": true,
"transcript": "NM_001256160.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 208,
"cds_end": null,
"cds_length": 1632,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000324570.9",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322811.5",
"strand": true,
"transcript": "ENST00000324570.9",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1632,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396559.5",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379807.1",
"strand": true,
"transcript": "ENST00000396559.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 73,
"aa_ref": "T",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 518,
"cds_end": null,
"cds_length": 223,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000569900.5",
"gene_hgnc_id": 20397,
"gene_symbol": "ATF7IP2",
"hgvs_c": "c.182C>T",
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