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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: 10-110100800-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110100800&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110100800,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016824.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "NM_016824.5",
"protein_id": "NP_058432.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356080.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016824.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000356080.9",
"protein_id": "ENSP00000348381.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016824.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356080.9"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000277900.12",
"protein_id": "ENSP00000277900.8",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 674,
"cds_start": 147,
"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": "ENST00000277900.12"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000360162.7",
"protein_id": "ENSP00000353286.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 674,
"cds_start": 147,
"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": "ENST00000360162.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "NM_001320591.2",
"protein_id": "NP_001307520.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320591.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "NM_001320592.2",
"protein_id": "NP_001307521.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320592.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "NM_001320593.2",
"protein_id": "NP_001307522.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320593.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901326.1",
"protein_id": "ENSP00000571385.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901326.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901327.1",
"protein_id": "ENSP00000571386.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901327.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901328.1",
"protein_id": "ENSP00000571387.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901328.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901330.1",
"protein_id": "ENSP00000571389.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901330.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901331.1",
"protein_id": "ENSP00000571390.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901331.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901339.1",
"protein_id": "ENSP00000571398.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901339.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901345.1",
"protein_id": "ENSP00000571404.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901345.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901347.1",
"protein_id": "ENSP00000571406.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901347.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901354.1",
"protein_id": "ENSP00000571413.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901354.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901356.1",
"protein_id": "ENSP00000571415.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901356.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000901360.1",
"protein_id": "ENSP00000571419.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901360.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000922591.1",
"protein_id": "ENSP00000592650.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922591.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000922592.1",
"protein_id": "ENSP00000592651.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922592.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000922596.1",
"protein_id": "ENSP00000592655.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922596.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe",
"transcript": "ENST00000958044.1",
"protein_id": "ENSP00000628103.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 706,
"cds_start": 147,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958044.1"
},
{
"aa_ref": "F",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.797,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016824.5",
"gene_symbol": "ADD3",
"hgnc_id": 245,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.147C>T",
"hgvs_p": "p.Phe49Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}