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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: 10-124010178-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124010178&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 124010178,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015892.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "NM_001270764.2",
"protein_id": "NP_001257693.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435907.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270764.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000435907.6",
"protein_id": "ENSP00000402394.1",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270764.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435907.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000346248.7",
"protein_id": "ENSP00000333947.6",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346248.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "NM_015892.5",
"protein_id": "NP_056976.2",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015892.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874549.1",
"protein_id": "ENSP00000544608.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874549.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874550.1",
"protein_id": "ENSP00000544609.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874550.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874551.1",
"protein_id": "ENSP00000544610.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874551.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874552.1",
"protein_id": "ENSP00000544611.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874552.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874553.1",
"protein_id": "ENSP00000544612.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874553.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874554.1",
"protein_id": "ENSP00000544613.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874554.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874555.1",
"protein_id": "ENSP00000544614.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874555.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874556.1",
"protein_id": "ENSP00000544615.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874556.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874557.1",
"protein_id": "ENSP00000544616.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874557.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000874558.1",
"protein_id": "ENSP00000544617.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874558.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000917873.1",
"protein_id": "ENSP00000587932.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917873.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000956350.1",
"protein_id": "ENSP00000626409.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956350.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000956351.1",
"protein_id": "ENSP00000626410.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956351.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "ENST00000956352.1",
"protein_id": "ENSP00000626411.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956352.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "XM_006717891.5",
"protein_id": "XP_006717954.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717891.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "XM_017016319.2",
"protein_id": "XP_016871808.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016319.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "XM_047425324.1",
"protein_id": "XP_047281280.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425324.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST15",
"gene_hgnc_id": 18137,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "XM_047425325.1",
"protein_id": "XP_047281281.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}