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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: 8-53795648-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=53795648&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 53795648,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015941.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "NM_015941.4",
"protein_id": "NP_057025.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359530.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015941.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000359530.7",
"protein_id": "ENSP00000352522.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015941.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359530.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000355221.7",
"protein_id": "ENSP00000347359.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355221.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "NM_213620.3",
"protein_id": "NP_998785.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213620.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000396774.6",
"protein_id": "ENSP00000379995.2",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396774.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000884428.1",
"protein_id": "ENSP00000554487.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884428.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000884432.1",
"protein_id": "ENSP00000554491.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 483,
"cds_start": 869,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884432.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000915528.1",
"protein_id": "ENSP00000585587.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 477,
"cds_start": 869,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915528.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "NM_213619.3",
"protein_id": "NP_998784.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213619.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000884425.1",
"protein_id": "ENSP00000554484.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884425.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000884433.1",
"protein_id": "ENSP00000554492.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884433.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000915530.1",
"protein_id": "ENSP00000585589.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915530.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000957348.1",
"protein_id": "ENSP00000627407.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 465,
"cds_start": 815,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957348.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000884427.1",
"protein_id": "ENSP00000554486.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 445,
"cds_start": 869,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000915523.1",
"protein_id": "ENSP00000585582.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 445,
"cds_start": 755,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915523.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000915533.1",
"protein_id": "ENSP00000585592.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 445,
"cds_start": 755,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000915534.1",
"protein_id": "ENSP00000585593.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 445,
"cds_start": 869,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915534.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250His",
"transcript": "ENST00000520188.5",
"protein_id": "ENSP00000429947.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 443,
"cds_start": 749,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520188.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000884430.1",
"protein_id": "ENSP00000554489.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 441,
"cds_start": 869,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884430.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000884431.1",
"protein_id": "ENSP00000554490.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 435,
"cds_start": 725,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884431.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1H",
"gene_hgnc_id": 18303,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000915525.1",
"protein_id": "ENSP00000585584.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 427,
"cds_start": 815,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915525.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
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"alphamissense_score": 0.7597,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.16,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0837069334054737,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015941.4",
"gene_symbol": "ATP6V1H",
"hgnc_id": 18303,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His"
}
],
"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
}