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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: 5-98774155-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=98774155&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RGMB",
"hgnc_id": 26896,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Pro70Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001012761.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RGMB-AS1",
"hgnc_id": 48666,
"hgvs_c": "n.160+193G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000812108.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0864,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2615272104740143,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001366508.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000513185.3",
"protein_coding": true,
"protein_id": "NP_001353437.1",
"strand": true,
"transcript": "NM_001366508.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000513185.3",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366508.1",
"protein_coding": true,
"protein_id": "ENSP00000423256.1",
"strand": true,
"transcript": "ENST00000513185.3",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1437,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308234.11",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Pro70Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308219.7",
"strand": true,
"transcript": "ENST00000308234.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4439,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1437,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001012761.3",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Pro70Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001012779.2",
"strand": true,
"transcript": "NM_001012761.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1437,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366509.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Pro70Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353438.1",
"strand": true,
"transcript": "NM_001366509.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1437,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366510.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Pro70Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353439.1",
"strand": true,
"transcript": "NM_001366510.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1434,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366511.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Pro69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353440.1",
"strand": true,
"transcript": "NM_001366511.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4973,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894564.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564623.1",
"strand": true,
"transcript": "ENST00000894564.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4942,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894565.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564624.1",
"strand": true,
"transcript": "ENST00000894565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894566.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564625.1",
"strand": true,
"transcript": "ENST00000894566.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894567.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564626.1",
"strand": true,
"transcript": "ENST00000894567.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4591,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894568.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564627.1",
"strand": true,
"transcript": "ENST00000894568.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894569.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564628.1",
"strand": true,
"transcript": "ENST00000894569.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894570.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564629.1",
"strand": true,
"transcript": "ENST00000894570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894571.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564630.1",
"strand": true,
"transcript": "ENST00000894571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894572.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564631.1",
"strand": true,
"transcript": "ENST00000894572.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929800.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599859.1",
"strand": true,
"transcript": "ENST00000929800.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4651,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929801.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599860.1",
"strand": true,
"transcript": "ENST00000929801.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929802.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599861.1",
"strand": true,
"transcript": "ENST00000929802.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929803.1",
"gene_hgnc_id": 26896,
"gene_symbol": "RGMB",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599862.1",
"strand": true,
"transcript": "ENST00000929803.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1314,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
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