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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: 9-71866798-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71866798&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "ABHD17B",
"hgnc_id": 24278,
"hgvs_c": "c.855+1G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_016014.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0906,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1589999943971634,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001025780.3",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333421.7",
"protein_coding": true,
"protein_id": "NP_001020951.1",
"strand": false,
"transcript": "NM_001025780.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000333421.7",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001025780.3",
"protein_coding": true,
"protein_id": "ENSP00000330222.6",
"strand": false,
"transcript": "ENST00000333421.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 293,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": null,
"cds_end": null,
"cds_length": 882,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377041.6",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.855+1G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366240.2",
"strand": false,
"transcript": "ENST00000377041.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860588.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530647.1",
"strand": false,
"transcript": "ENST00000860588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1711,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860589.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530648.1",
"strand": false,
"transcript": "ENST00000860589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860590.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530649.1",
"strand": false,
"transcript": "ENST00000860590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860591.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530650.1",
"strand": false,
"transcript": "ENST00000860591.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860592.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530651.1",
"strand": false,
"transcript": "ENST00000860592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860593.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530652.1",
"strand": false,
"transcript": "ENST00000860593.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860594.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530653.1",
"strand": false,
"transcript": "ENST00000860594.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860595.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530654.1",
"strand": false,
"transcript": "ENST00000860595.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 896,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860598.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530657.1",
"strand": false,
"transcript": "ENST00000860598.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 288,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860599.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530658.1",
"strand": false,
"transcript": "ENST00000860599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860600.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530659.1",
"strand": false,
"transcript": "ENST00000860600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 288,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930684.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600743.1",
"strand": false,
"transcript": "ENST00000930684.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 990,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930686.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600745.1",
"strand": false,
"transcript": "ENST00000930686.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 946,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930687.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600746.1",
"strand": false,
"transcript": "ENST00000930687.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 288,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 963,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930688.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600747.1",
"strand": false,
"transcript": "ENST00000930688.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
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"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945710.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615769.1",
"strand": false,
"transcript": "ENST00000945710.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945711.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615770.1",
"strand": false,
"transcript": "ENST00000945711.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 867,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945712.1",
"gene_hgnc_id": 24278,
"gene_symbol": "ABHD17B",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"intron_rank": null,
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