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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: 1-161171922-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161171922&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "B4GALT3",
"hgnc_id": 926,
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_003779.4",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"hgvs_c": "c.237+1153G>C",
"hgvs_p": null,
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000535223.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 572,
"alphamissense_prediction": null,
"alphamissense_score": 0.0612,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "1",
"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": 0.13707831501960754,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003779.4",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319769.10",
"protein_coding": true,
"protein_id": "NP_003770.1",
"strand": false,
"transcript": "NM_003779.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000319769.10",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003779.4",
"protein_coding": true,
"protein_id": "ENSP00000320965.5",
"strand": false,
"transcript": "ENST00000319769.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367998.5",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356977.1",
"strand": false,
"transcript": "ENST00000367998.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000622395.4",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480428.1",
"strand": false,
"transcript": "ENST00000622395.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 405,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907555.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Pro371Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577614.1",
"strand": false,
"transcript": "ENST00000907555.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 405,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907560.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Pro371Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577619.1",
"strand": false,
"transcript": "ENST00000907560.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "P",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940286.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1109C>G",
"hgvs_p": "p.Pro370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610345.1",
"strand": false,
"transcript": "ENST00000940286.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940283.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610342.1",
"strand": false,
"transcript": "ENST00000940283.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001199873.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186802.1",
"strand": false,
"transcript": "NM_001199873.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001199874.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186803.1",
"strand": false,
"transcript": "NM_001199874.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 3309,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907550.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577609.1",
"strand": false,
"transcript": "ENST00000907550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907551.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577610.1",
"strand": false,
"transcript": "ENST00000907551.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907552.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577611.1",
"strand": false,
"transcript": "ENST00000907552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907553.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577612.1",
"strand": false,
"transcript": "ENST00000907553.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907554.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577613.1",
"strand": false,
"transcript": "ENST00000907554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907556.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577615.1",
"strand": false,
"transcript": "ENST00000907556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907557.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577616.1",
"strand": false,
"transcript": "ENST00000907557.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907559.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577618.1",
"strand": false,
"transcript": "ENST00000907559.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907561.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577620.1",
"strand": false,
"transcript": "ENST00000907561.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907563.1",
"gene_hgnc_id": 926,
"gene_symbol": "B4GALT3",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Pro359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577622.1",
"strand": false,
"transcript": "ENST00000907563.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 359,
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