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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: 7-99359584-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99359584&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99359584,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006409.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "NM_006409.4",
"protein_id": "NP_006400.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 370,
"cds_start": 829,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262942.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006409.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000262942.10",
"protein_id": "ENSP00000262942.5",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 370,
"cds_start": 829,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006409.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262942.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284292",
"gene_hgnc_id": null,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000638617.1",
"protein_id": "ENSP00000491073.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 684,
"cds_start": 829,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638617.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Arg299Gly",
"transcript": "ENST00000899462.1",
"protein_id": "ENSP00000569521.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 392,
"cds_start": 895,
"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": "ENST00000899462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000960464.1",
"protein_id": "ENSP00000630523.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 386,
"cds_start": 829,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960464.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000960463.1",
"protein_id": "ENSP00000630522.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 384,
"cds_start": 829,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000899463.1",
"protein_id": "ENSP00000569522.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 370,
"cds_start": 829,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000960466.1",
"protein_id": "ENSP00000630525.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 370,
"cds_start": 829,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960466.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000899461.1",
"protein_id": "ENSP00000569520.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 363,
"cds_start": 829,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899461.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Arg263Gly",
"transcript": "NM_001190996.2",
"protein_id": "NP_001177925.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 356,
"cds_start": 787,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190996.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Arg242Gly",
"transcript": "ENST00000899458.1",
"protein_id": "ENSP00000569517.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 335,
"cds_start": 724,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899458.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Arg206Gly",
"transcript": "ENST00000899460.1",
"protein_id": "ENSP00000569519.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 299,
"cds_start": 616,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Arg206Gly",
"transcript": "ENST00000937328.1",
"protein_id": "ENSP00000607387.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 292,
"cds_start": 616,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937328.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"transcript": "ENST00000937327.1",
"protein_id": "ENSP00000607386.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 282,
"cds_start": 565,
"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": "ENST00000937327.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "ENST00000899459.1",
"protein_id": "ENSP00000569518.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 263,
"cds_start": 508,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "c.714-3959C>G",
"hgvs_p": null,
"transcript": "ENST00000960465.1",
"protein_id": "ENSP00000630524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"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": "ENST00000960465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "n.828C>G",
"hgvs_p": null,
"transcript": "ENST00000432786.5",
"protein_id": "ENSP00000408711.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000432786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284292",
"gene_hgnc_id": null,
"hgvs_c": "n.*851C>G",
"hgvs_p": null,
"transcript": "ENST00000441989.6",
"protein_id": "ENSP00000412879.1",
"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": "ENST00000441989.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "n.150C>G",
"hgvs_p": null,
"transcript": "ENST00000463009.1",
"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": "ENST00000463009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"hgvs_c": "n.303C>G",
"hgvs_p": null,
"transcript": "ENST00000471960.5",
"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": "ENST00000471960.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284292",
"gene_hgnc_id": null,
"hgvs_c": "n.*851C>G",
"hgvs_p": null,
"transcript": "ENST00000441989.6",
"protein_id": "ENSP00000412879.1",
"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": "ENST00000441989.6"
}
],
"gene_symbol": "ARPC1A",
"gene_hgnc_id": 703,
"dbsnp": "rs187071817",
"frequency_reference_population": 0.0000020521409,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07892483472824097,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.1058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.972,
"phylop100way_prediction": "Uncertain_significance",
"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_006409.4",
"gene_symbol": "ARPC1A",
"hgnc_id": 703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000638617.1",
"gene_symbol": "ENSG00000284292",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly"
}
],
"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
}