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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: 21-25764620-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25764620&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25764620,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_002040.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "NM_002040.4",
"protein_id": "NP_002031.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": "ENST00000400075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002040.4"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000400075.4",
"protein_id": "ENSP00000382948.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": "NM_002040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400075.4"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000354828.7",
"protein_id": "ENSP00000346886.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354828.7"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924594.1",
"protein_id": "ENSP00000594653.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 484,
"cds_start": 969,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924594.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924595.1",
"protein_id": "ENSP00000594654.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 484,
"cds_start": 969,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924595.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000962278.1",
"protein_id": "ENSP00000632337.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 484,
"cds_start": 969,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962278.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "NM_001197297.2",
"protein_id": "NP_001184226.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197297.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904128.1",
"protein_id": "ENSP00000574187.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904128.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904129.1",
"protein_id": "ENSP00000574188.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904129.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904130.1",
"protein_id": "ENSP00000574189.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904130.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904131.1",
"protein_id": "ENSP00000574190.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904131.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904132.1",
"protein_id": "ENSP00000574191.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 5626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904132.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904133.1",
"protein_id": "ENSP00000574192.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904133.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904135.1",
"protein_id": "ENSP00000574194.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904135.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904136.1",
"protein_id": "ENSP00000574195.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904136.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904137.1",
"protein_id": "ENSP00000574196.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904137.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904138.1",
"protein_id": "ENSP00000574197.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904138.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000904139.1",
"protein_id": "ENSP00000574198.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904139.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924592.1",
"protein_id": "ENSP00000594651.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924592.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924593.1",
"protein_id": "ENSP00000594652.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924593.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924596.1",
"protein_id": "ENSP00000594655.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924596.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPA",
"gene_hgnc_id": 4071,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*",
"transcript": "ENST00000924597.1",
"protein_id": "ENSP00000594656.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 454,
"cds_start": 969,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.996,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_002040.4",
"gene_symbol": "GABPA",
"hgnc_id": 4071,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Trp323*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}