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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: 9-128275954-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128275954&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GOLGA2",
"hgnc_id": 4425,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001366244.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SWI5",
"hgnc_id": 31412,
"hgvs_c": "c.89+458G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001379267.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.2047,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "9",
"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": 0.29967767000198364,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3090,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001366244.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611957.5",
"protein_coding": true,
"protein_id": "NP_001353173.2",
"strand": false,
"transcript": "NM_001366244.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3090,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000611957.5",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366244.2",
"protein_coding": true,
"protein_id": "ENSP00000478799.2",
"strand": false,
"transcript": "ENST00000611957.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 73,
"cds_end": null,
"cds_length": 3009,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000421699.8",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416097.4",
"strand": false,
"transcript": "ENST00000421699.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3075,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389695.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376624.2",
"strand": false,
"transcript": "NM_001389695.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 24,
"cds_end": null,
"cds_length": 3075,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964637.1",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634696.1",
"strand": false,
"transcript": "ENST00000964637.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3072,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389696.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376625.2",
"strand": false,
"transcript": "NM_001389696.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4278,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3009,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001366246.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353175.2",
"strand": false,
"transcript": "NM_001366246.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4278,
"cdna_start": 54,
"cds_end": null,
"cds_length": 3009,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_004486.6",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004477.5",
"strand": false,
"transcript": "NM_004486.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 42,
"cds_end": null,
"cds_length": 3009,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000687179.1",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510790.1",
"strand": false,
"transcript": "ENST00000687179.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 998,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4266,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2997,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389697.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376626.2",
"strand": false,
"transcript": "NM_001389697.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 997,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 24,
"cds_end": null,
"cds_length": 2994,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000450617.8",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409271.4",
"strand": false,
"transcript": "ENST00000450617.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 996,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2991,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
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"feature": "NM_001389698.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001376627.2",
"strand": false,
"transcript": "NM_001389698.2",
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},
{
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"cds_length": 2970,
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"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389699.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376628.2",
"strand": false,
"transcript": "NM_001389699.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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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": 54,
"cds_end": null,
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"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389700.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001376629.2",
"strand": false,
"transcript": "NM_001389700.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2970,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000686291.1",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510145.1",
"strand": false,
"transcript": "ENST00000686291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2928,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389701.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376630.2",
"strand": false,
"transcript": "NM_001389701.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": 23,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000693185.1",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508841.1",
"strand": false,
"transcript": "ENST00000693185.1",
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},
{
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"cds_end": null,
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"cds_start": 23,
"consequences": [
"missense_variant"
],
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"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389702.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001376631.2",
"strand": false,
"transcript": "NM_001389702.2",
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},
{
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"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389703.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376632.2",
"strand": false,
"transcript": "NM_001389703.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2637,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001389704.2",
"gene_hgnc_id": 4425,
"gene_symbol": "GOLGA2",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Pro8Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376633.2",
"strand": false,
"transcript": "NM_001389704.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 54,
"cds_end": null,
"cds_length": 2616,
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