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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: 6-28995471-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28995471&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 28995471,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001010877.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "NM_001382360.1",
"protein_id": "NP_001369289.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377179.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382360.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000377179.4",
"protein_id": "ENSP00000366384.3",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382360.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377179.4"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1630A>T",
"hgvs_p": "p.Lys544*",
"transcript": "ENST00000916448.1",
"protein_id": "ENSP00000586507.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 699,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916448.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1630A>T",
"hgvs_p": "p.Lys544*",
"transcript": "ENST00000953058.1",
"protein_id": "ENSP00000623117.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 699,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953058.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1630A>T",
"hgvs_p": "p.Lys544*",
"transcript": "ENST00000953059.1",
"protein_id": "ENSP00000623118.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 699,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953059.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1606A>T",
"hgvs_p": "p.Lys536*",
"transcript": "ENST00000916445.1",
"protein_id": "ENSP00000586504.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 691,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916445.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1606A>T",
"hgvs_p": "p.Lys536*",
"transcript": "ENST00000916446.1",
"protein_id": "ENSP00000586505.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 691,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916446.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1606A>T",
"hgvs_p": "p.Lys536*",
"transcript": "ENST00000953060.1",
"protein_id": "ENSP00000623119.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 691,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953060.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1603A>T",
"hgvs_p": "p.Lys535*",
"transcript": "ENST00000910911.1",
"protein_id": "ENSP00000580970.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 690,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910911.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Lys527*",
"transcript": "ENST00000916442.1",
"protein_id": "ENSP00000586501.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 682,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916442.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Lys527*",
"transcript": "ENST00000953056.1",
"protein_id": "ENSP00000623115.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 682,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953056.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1555A>T",
"hgvs_p": "p.Lys519*",
"transcript": "ENST00000910908.1",
"protein_id": "ENSP00000580967.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 674,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910908.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1555A>T",
"hgvs_p": "p.Lys519*",
"transcript": "ENST00000910909.1",
"protein_id": "ENSP00000580968.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 674,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910909.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1555A>T",
"hgvs_p": "p.Lys519*",
"transcript": "ENST00000916447.1",
"protein_id": "ENSP00000586506.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 674,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916447.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1555A>T",
"hgvs_p": "p.Lys519*",
"transcript": "ENST00000953057.1",
"protein_id": "ENSP00000623116.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 674,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953057.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "NM_001010877.5",
"protein_id": "NP_001010877.2",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010877.5"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000910907.1",
"protein_id": "ENSP00000580966.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910907.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000910910.1",
"protein_id": "ENSP00000580969.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910910.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000916441.1",
"protein_id": "ENSP00000586500.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916441.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000916443.1",
"protein_id": "ENSP00000586502.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916443.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000916444.1",
"protein_id": "ENSP00000586503.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916444.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF311",
"gene_hgnc_id": 13847,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Lys511*",
"transcript": "ENST00000916449.1",
"protein_id": "ENSP00000586508.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 666,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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{
"score": 4,
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"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}