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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: 4-70722593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=70722593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUFY3",
"hgnc_id": 30285,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001037442.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 268,
"alphamissense_prediction": null,
"alphamissense_score": 0.1405,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "4",
"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": 0.1480909287929535,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1863,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001037442.4",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381006.8",
"protein_coding": true,
"protein_id": "NP_001032519.1",
"strand": true,
"transcript": "NM_001037442.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1863,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000381006.8",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001037442.4",
"protein_coding": true,
"protein_id": "ENSP00000370394.3",
"strand": true,
"transcript": "ENST00000381006.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1410,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000226328.8",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000226328.4",
"strand": true,
"transcript": "ENST00000226328.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 506,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417478.6",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399771.2",
"strand": true,
"transcript": "ENST00000417478.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1863,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947599.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617658.1",
"strand": true,
"transcript": "ENST00000947599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1464,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001291994.2",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278923.1",
"strand": true,
"transcript": "NM_001291994.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1410,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_014961.5",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055776.1",
"strand": true,
"transcript": "NM_014961.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9449,
"cdna_start": 5592,
"cds_end": null,
"cds_length": 1917,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005265656.4",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265713.1",
"strand": true,
"transcript": "XM_005265656.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1794,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449826.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305782.1",
"strand": true,
"transcript": "XM_047449826.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 515,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1548,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449829.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305785.1",
"strand": true,
"transcript": "XM_047449829.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 630,
"cds_end": null,
"cds_length": 1494,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
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"feature": "XM_047449830.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305786.1",
"strand": true,
"transcript": "XM_047449830.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
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"feature": "NM_001130709.2",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124181.1",
"strand": true,
"transcript": "NM_001130709.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000503876.5",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.-15+18118C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000426734.1",
"strand": true,
"transcript": "ENST00000503876.5",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011531750.3",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530052.1",
"strand": true,
"transcript": "XM_011531750.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "XM_047449825.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305781.1",
"strand": true,
"transcript": "XM_047449825.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1974,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "XM_011531751.4",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011530053.1",
"strand": true,
"transcript": "XM_011531751.4",
"transcript_support_level": null
},
{
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"aa_length": 586,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": null,
"cds_end": null,
"cds_length": 1761,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449827.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305783.1",
"strand": true,
"transcript": "XM_047449827.1",
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},
{
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"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "XM_047449828.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305784.1",
"strand": true,
"transcript": "XM_047449828.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"exon_rank": null,
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"feature": "XM_011531755.4",
"gene_hgnc_id": 30285,
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"hgvs_c": "c.358+17299C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011530057.1",
"strand": true,
"transcript": "XM_011531755.4",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011531756.4",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "c.358+17299C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530058.1",
"strand": true,
"transcript": "XM_011531756.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007096384.1",
"gene_hgnc_id": 30285,
"gene_symbol": "RUFY3",
"hgvs_c": "n.556+17299C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007096384.1",
"transcript_support_level": null
},
{
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]
}