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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: 16-728005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=728005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 728005,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001323636.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_032304.4",
"protein_id": "NP_115680.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389703.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032304.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000389703.8",
"protein_id": "ENSP00000374353.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032304.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389703.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"transcript": "ENST00000389701.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000389701.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_001323636.2",
"protein_id": "NP_001310565.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 337,
"cds_start": 146,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323636.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_207112.2",
"protein_id": "NP_996995.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 290,
"cds_start": 146,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207112.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000341413.8",
"protein_id": "ENSP00000341952.4",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 290,
"cds_start": 146,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341413.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_001290137.2",
"protein_id": "NP_001277066.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290137.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_001290139.2",
"protein_id": "NP_001277068.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290139.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_001323635.2",
"protein_id": "NP_001310564.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323635.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905744.1",
"protein_id": "ENSP00000575803.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905744.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905745.1",
"protein_id": "ENSP00000575804.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905745.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000917737.1",
"protein_id": "ENSP00000587796.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917737.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000917739.1",
"protein_id": "ENSP00000587798.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917739.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000917740.1",
"protein_id": "ENSP00000587799.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 282,
"cds_start": 146,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917740.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905749.1",
"protein_id": "ENSP00000575808.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 281,
"cds_start": 146,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905749.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000917738.1",
"protein_id": "ENSP00000587797.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 281,
"cds_start": 146,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917738.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905746.1",
"protein_id": "ENSP00000575805.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 273,
"cds_start": 146,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905746.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905747.1",
"protein_id": "ENSP00000575806.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 273,
"cds_start": 146,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905747.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000971660.1",
"protein_id": "ENSP00000641719.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 273,
"cds_start": 146,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971660.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_001365282.1",
"protein_id": "NP_001352211.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 227,
"cds_start": 146,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365282.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000561546.5",
"protein_id": "ENSP00000456390.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 227,
"cds_start": 146,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561546.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGHL",
"gene_hgnc_id": 14177,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000905750.1",
"protein_id": "ENSP00000575809.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 212,
"cds_start": 146,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905750.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
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"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2041865587234497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.365,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2327,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.444,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323636.2",
"gene_symbol": "HAGHL",
"hgnc_id": 14177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val"
}
],
"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
}