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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: 10-72097391-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72097391&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ASCC1",
"hgnc_id": 24268,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001198798.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "10",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001198800.3",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000672957.1",
"protein_coding": true,
"protein_id": "NP_001185729.1",
"strand": false,
"transcript": "NM_001198800.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000672957.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198800.3",
"protein_coding": true,
"protein_id": "ENSP00000500935.1",
"strand": false,
"transcript": "ENST00000672957.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902262.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Arg367Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572321.1",
"strand": false,
"transcript": "ENST00000902262.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1077,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000672774.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1077G>A",
"hgvs_p": "p.Arg359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500488.1",
"strand": false,
"transcript": "ENST00000672774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1077,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957305.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1077G>A",
"hgvs_p": "p.Arg359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627364.1",
"strand": false,
"transcript": "ENST00000957305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001198798.2",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185727.1",
"strand": false,
"transcript": "NM_001198798.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369093.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356022.1",
"strand": false,
"transcript": "NM_001369093.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369094.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356023.1",
"strand": false,
"transcript": "NM_001369094.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369095.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356024.1",
"strand": false,
"transcript": "NM_001369095.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000317126.8",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320461.4",
"strand": false,
"transcript": "ENST00000317126.8",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902261.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572320.1",
"strand": false,
"transcript": "ENST00000902261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902263.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572322.1",
"strand": false,
"transcript": "ENST00000902263.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902264.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572323.1",
"strand": false,
"transcript": "ENST00000902264.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911756.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581815.1",
"strand": false,
"transcript": "ENST00000911756.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957304.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627363.1",
"strand": false,
"transcript": "ENST00000957304.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1020,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001369099.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Arg321Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356028.1",
"strand": false,
"transcript": "NM_001369099.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 957,
"cds_start": 900,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369105.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Arg300Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356034.1",
"strand": false,
"transcript": "NM_001369105.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 957,
"cds_start": 900,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369106.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Arg300Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356035.1",
"strand": false,
"transcript": "NM_001369106.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 957,
"cds_start": 900,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369107.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Arg300Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356036.1",
"strand": false,
"transcript": "NM_001369107.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 954,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001369108.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Arg299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356037.1",
"strand": false,
"transcript": "NM_001369108.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 954,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001369109.1",
"gene_hgnc_id": 24268,
"gene_symbol": "ASCC1",
"hgvs_c": "c.897G>A",
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