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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: 10-46010611-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46010611&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46010611,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145260.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "NM_001145263.2",
"protein_id": "NP_001138735.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000581486.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145263.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000581486.6",
"protein_id": "ENSP00000462943.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145263.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581486.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Lys453Thr",
"transcript": "ENST00000578454.5",
"protein_id": "ENSP00000463027.1",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 650,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578454.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000585132.5",
"protein_id": "ENSP00000464054.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585132.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Lys453Thr",
"transcript": "NM_001145260.2",
"protein_id": "NP_001138732.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 650,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145260.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Lys453Thr",
"transcript": "NM_001145261.2",
"protein_id": "NP_001138733.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 630,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145261.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Lys453Thr",
"transcript": "ENST00000579039.2",
"protein_id": "ENSP00000463455.1",
"transcript_support_level": 2,
"aa_start": 453,
"aa_end": null,
"aa_length": 630,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579039.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "NM_001145262.2",
"protein_id": "NP_001138734.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145262.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "NM_005437.4",
"protein_id": "NP_005428.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005437.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000583565.5",
"protein_id": "ENSP00000463476.1",
"transcript_support_level": 2,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583565.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863403.1",
"protein_id": "ENSP00000533462.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863403.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863406.1",
"protein_id": "ENSP00000533465.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863406.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863407.1",
"protein_id": "ENSP00000533466.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863407.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863408.1",
"protein_id": "ENSP00000533467.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863408.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863409.1",
"protein_id": "ENSP00000533468.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863409.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863411.1",
"protein_id": "ENSP00000533470.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863411.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863412.1",
"protein_id": "ENSP00000533471.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863412.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863413.1",
"protein_id": "ENSP00000533472.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863413.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863414.1",
"protein_id": "ENSP00000533473.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863414.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863416.1",
"protein_id": "ENSP00000533475.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863416.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863418.1",
"protein_id": "ENSP00000533477.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863418.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"transcript": "ENST00000863419.1",
"protein_id": "ENSP00000533478.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 614,
"cds_start": 1310,
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{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145260.2",
"gene_symbol": "NCOA4",
"hgnc_id": 7671,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Lys453Thr"
}
],
"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
}