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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: 16-67438568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67438568&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67438568,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004691.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "NM_004691.5",
"protein_id": "NP_004682.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 351,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290949.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004691.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000290949.8",
"protein_id": "ENSP00000290949.3",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 351,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004691.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290949.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000540149.5",
"protein_id": "ENSP00000441282.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 392,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540149.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000898463.1",
"protein_id": "ENSP00000568522.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 364,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898463.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338His",
"transcript": "ENST00000936171.1",
"protein_id": "ENSP00000606230.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 350,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936171.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337His",
"transcript": "ENST00000898461.1",
"protein_id": "ENSP00000568520.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 349,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898461.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337His",
"transcript": "ENST00000956178.1",
"protein_id": "ENSP00000626237.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 349,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956178.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330His",
"transcript": "ENST00000956180.1",
"protein_id": "ENSP00000626239.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 342,
"cds_start": 989,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956180.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "ENST00000898462.1",
"protein_id": "ENSP00000568521.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 340,
"cds_start": 983,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898462.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "ENST00000956179.1",
"protein_id": "ENSP00000626238.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 333,
"cds_start": 962,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956179.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317His",
"transcript": "ENST00000898460.1",
"protein_id": "ENSP00000568519.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 329,
"cds_start": 950,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898460.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Arg269His",
"transcript": "ENST00000956181.1",
"protein_id": "ENSP00000626240.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 281,
"cds_start": 806,
"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": "ENST00000956181.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Arg268His",
"transcript": "ENST00000956177.1",
"protein_id": "ENSP00000626236.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 280,
"cds_start": 803,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956177.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "ENST00000565835.5",
"protein_id": "ENSP00000463328.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 231,
"cds_start": 656,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565835.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*926G>A",
"hgvs_p": null,
"transcript": "ENST00000426604.7",
"protein_id": "ENSP00000393910.4",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000426604.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.1125G>A",
"hgvs_p": null,
"transcript": "ENST00000563305.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000563305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.555G>A",
"hgvs_p": null,
"transcript": "ENST00000567694.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000567694.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.2836G>A",
"hgvs_p": null,
"transcript": "ENST00000568620.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000568620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*926G>A",
"hgvs_p": null,
"transcript": "ENST00000426604.7",
"protein_id": "ENSP00000393910.4",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000426604.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*803G>A",
"hgvs_p": null,
"transcript": "ENST00000561852.5",
"protein_id": "ENSP00000457744.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000561852.5"
}
],
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"dbsnp": "rs551803640",
"frequency_reference_population": 0.000006196501,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000061564,
"gnomad_genomes_af": 0.00000658241,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6331305503845215,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.267,
"revel_prediction": "Benign",
"alphamissense_score": 0.2385,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.899,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004691.5",
"gene_symbol": "ATP6V0D1",
"hgnc_id": 13724,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His"
}
],
"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
}