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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: 10-121841238-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=121841238&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 121841238,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001439361.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "NM_001001976.3",
"protein_id": "NP_001001976.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 518,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": "ENST00000224652.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001976.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000224652.12",
"protein_id": "ENSP00000224652.6",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 518,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": "NM_001001976.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224652.12"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000369043.8",
"protein_id": "ENSP00000358039.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 518,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369043.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "n.*718A>G",
"hgvs_p": null,
"transcript": "ENST00000423243.7",
"protein_id": "ENSP00000397787.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000423243.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "n.*718A>G",
"hgvs_p": null,
"transcript": "ENST00000423243.7",
"protein_id": "ENSP00000397787.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000423243.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1181A>G",
"hgvs_p": "p.Asp394Gly",
"transcript": "NM_001439361.1",
"protein_id": "NP_001426290.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 578,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439361.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Asp377Gly",
"transcript": "ENST00000904051.1",
"protein_id": "ENSP00000574110.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 567,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904051.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Asp377Gly",
"transcript": "NM_001437419.1",
"protein_id": "NP_001424348.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 5024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437419.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Asp377Gly",
"transcript": "ENST00000690355.1",
"protein_id": "ENSP00000510433.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690355.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Asp372Gly",
"transcript": "ENST00000687089.1",
"protein_id": "ENSP00000510151.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 556,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687089.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1109A>G",
"hgvs_p": "p.Asp370Gly",
"transcript": "NM_001439362.1",
"protein_id": "NP_001426291.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 554,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439362.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000904052.1",
"protein_id": "ENSP00000574111.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 553,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904052.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Asp366Gly",
"transcript": "NM_001439363.1",
"protein_id": "NP_001426292.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 550,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439363.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1076A>G",
"hgvs_p": "p.Asp359Gly",
"transcript": "NM_001439364.1",
"protein_id": "NP_001426293.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 543,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439364.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asp358Gly",
"transcript": "ENST00000691830.1",
"protein_id": "ENSP00000509345.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 542,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691830.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asp356Gly",
"transcript": "NM_001439365.1",
"protein_id": "NP_001426294.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 540,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439365.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Asp351Gly",
"transcript": "NM_001439366.1",
"protein_id": "NP_001426295.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 535,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439366.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Asp351Gly",
"transcript": "NM_001439367.1",
"protein_id": "NP_001426296.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 535,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439367.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000952092.1",
"protein_id": "ENSP00000622151.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 524,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952092.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000952093.1",
"protein_id": "ENSP00000622152.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 524,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952093.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "NM_007041.4",
"protein_id": "NP_008972.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 518,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007041.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATE1",
"gene_hgnc_id": 782,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Asp334Gly",
"transcript": "ENST00000685007.1",
"protein_id": "ENSP00000508990.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 518,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001439361.1",
"gene_symbol": "ATE1",
"hgnc_id": 782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1181A>G",
"hgvs_p": "p.Asp394Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}