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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: 1-145897625-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145897625&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGA10",
"hgnc_id": 6135,
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003637.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.1364,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7699885964393616,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3504,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_003637.5",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369304.8",
"protein_coding": true,
"protein_id": "NP_003628.2",
"strand": false,
"transcript": "NM_003637.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3504,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000369304.8",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003637.5",
"protein_coding": true,
"protein_id": "ENSP00000358310.3",
"strand": false,
"transcript": "ENST00000369304.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000539363.2",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439894.1",
"strand": false,
"transcript": "ENST00000539363.2",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000889441.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559500.1",
"strand": false,
"transcript": "ENST00000889441.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000889439.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559498.1",
"strand": false,
"transcript": "ENST00000889439.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000965598.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635657.1",
"strand": false,
"transcript": "ENST00000965598.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000889440.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Arg740Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559499.1",
"strand": false,
"transcript": "ENST00000889440.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "R",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001303040.2",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2068C>T",
"hgvs_p": "p.Arg690Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289969.1",
"strand": false,
"transcript": "NM_001303040.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001303041.2",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289970.1",
"strand": false,
"transcript": "NM_001303041.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3546,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017002622.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Arg835Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858111.1",
"strand": false,
"transcript": "XM_017002622.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "R",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 3543,
"cds_start": 2500,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017002623.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2500C>T",
"hgvs_p": "p.Arg834Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858112.1",
"strand": false,
"transcript": "XM_017002623.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1166,
"aa_ref": "R",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5127,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 3501,
"cds_start": 2458,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047432895.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2458C>T",
"hgvs_p": "p.Arg820Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288851.1",
"strand": false,
"transcript": "XM_047432895.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017002624.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Arg835Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858113.1",
"strand": false,
"transcript": "XM_017002624.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017002625.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Arg835Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858114.1",
"strand": false,
"transcript": "XM_017002625.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047432904.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288860.1",
"strand": false,
"transcript": "XM_047432904.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1129,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047432906.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Arg821Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288862.1",
"strand": false,
"transcript": "XM_047432906.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2458,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047432909.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2458C>T",
"hgvs_p": "p.Arg820Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288865.1",
"strand": false,
"transcript": "XM_047432909.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047432910.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Arg835Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288866.1",
"strand": false,
"transcript": "XM_047432910.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": 2299,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047432915.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288871.1",
"strand": false,
"transcript": "XM_047432915.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1100,
"aa_ref": "R",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4983,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 3303,
"cds_start": 2260,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017002626.1",
"gene_hgnc_id": 6135,
"gene_symbol": "ITGA10",
"hgvs_c": "c.2260C>T",
"hgvs_p": "p.Arg754Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858115.1",
"strand": false,
"transcript": "XM_017002626.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4902,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
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