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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: 8-133461905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133461905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ST3GAL1",
"hgnc_id": 10862,
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_003033.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 798802,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6715,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_173344.3",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000522652.6",
"protein_coding": true,
"protein_id": "NP_775479.1",
"strand": false,
"transcript": "NM_173344.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6715,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000522652.6",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173344.3",
"protein_coding": true,
"protein_id": "ENSP00000430515.1",
"strand": false,
"transcript": "ENST00000522652.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6951,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000521180.5",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428540.1",
"strand": false,
"transcript": "ENST00000521180.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6918,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003033.4",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003024.1",
"strand": false,
"transcript": "NM_003033.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000648219.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497381.1",
"strand": false,
"transcript": "ENST00000648219.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876372.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546431.1",
"strand": false,
"transcript": "ENST00000876372.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876373.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546432.1",
"strand": false,
"transcript": "ENST00000876373.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876374.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546433.1",
"strand": false,
"transcript": "ENST00000876374.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876375.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546434.1",
"strand": false,
"transcript": "ENST00000876375.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876377.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546436.1",
"strand": false,
"transcript": "ENST00000876377.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876378.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546437.1",
"strand": false,
"transcript": "ENST00000876378.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876380.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546439.1",
"strand": false,
"transcript": "ENST00000876380.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 340,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876381.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546440.1",
"strand": false,
"transcript": "ENST00000876381.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876382.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546441.1",
"strand": false,
"transcript": "ENST00000876382.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 340,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1902,
"cds_end": null,
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"cds_start": 819,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876383.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546442.1",
"strand": false,
"transcript": "ENST00000876383.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876384.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546443.1",
"strand": false,
"transcript": "ENST00000876384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876385.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546444.1",
"strand": false,
"transcript": "ENST00000876385.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_start": 2153,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876386.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546445.1",
"strand": false,
"transcript": "ENST00000876386.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876387.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546446.1",
"strand": false,
"transcript": "ENST00000876387.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876388.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546447.1",
"strand": false,
"transcript": "ENST00000876388.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1023,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876389.1",
"gene_hgnc_id": 10862,
"gene_symbol": "ST3GAL1",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ser273Ser",
"intron_rank": null,
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