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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: 10-97244015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97244015&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGAP19",
"hgnc_id": 23724,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_032900.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ARHGAP19-SLIT1",
"hgnc_id": 48348,
"hgvs_c": "n.1138G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000479633.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.088,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24409574270248413,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5438,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_032900.6",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358531.9",
"protein_coding": true,
"protein_id": "NP_116289.4",
"strand": false,
"transcript": "NM_032900.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5438,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000358531.9",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032900.6",
"protein_coding": true,
"protein_id": "ENSP00000351333.4",
"strand": false,
"transcript": "ENST00000358531.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 465,
"aa_ref": "V",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358308.7",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351058.4",
"strand": false,
"transcript": "ENST00000358308.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000479633.2",
"gene_hgnc_id": 48348,
"gene_symbol": "ARHGAP19-SLIT1",
"hgvs_c": "n.1138G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473567.1",
"strand": false,
"transcript": "ENST00000479633.2",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 525,
"aa_ref": "V",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5554,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906074.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576133.1",
"strand": false,
"transcript": "ENST00000906074.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 501,
"aa_ref": "V",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5484,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906073.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576132.1",
"strand": false,
"transcript": "ENST00000906073.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5424,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001256423.2",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243352.1",
"strand": false,
"transcript": "NM_001256423.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371027.5",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360066.1",
"strand": false,
"transcript": "ENST00000371027.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911354.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581413.1",
"strand": false,
"transcript": "ENST00000911354.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 472,
"aa_ref": "V",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911351.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Val358Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581410.1",
"strand": false,
"transcript": "ENST00000911351.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 465,
"aa_ref": "V",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001204300.2",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191229.1",
"strand": false,
"transcript": "NM_001204300.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911353.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Val346Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581412.1",
"strand": false,
"transcript": "ENST00000911353.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 444,
"aa_ref": "V",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1335,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906075.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Val330Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576134.1",
"strand": false,
"transcript": "ENST00000906075.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1287,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911355.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581414.1",
"strand": false,
"transcript": "ENST00000911355.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 387,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5115,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1164,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911356.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Val273Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581415.1",
"strand": false,
"transcript": "ENST00000911356.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 401,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5175,
"cdna_start": null,
"cds_end": null,
"cds_length": 1206,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911352.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "c.906+2257G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581411.1",
"strand": false,
"transcript": "ENST00000911352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487035.1",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "n.264G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487035.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000492211.5",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "n.*327G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473327.1",
"strand": false,
"transcript": "ENST00000492211.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_037909.1",
"gene_hgnc_id": 48348,
"gene_symbol": "ARHGAP19-SLIT1",
"hgvs_c": "n.1184G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_037909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000492211.5",
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"hgvs_c": "n.*327G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473327.1",
"strand": false,
"transcript": "ENST00000492211.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs778966332",
"effect": "missense_variant",
"frequency_reference_population": 0.000020455222,
"gene_hgnc_id": 23724,
"gene_symbol": "ARHGAP19",
"gnomad_exomes_ac": 31,
"gnomad_exomes_af": 0.0000212165,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131447,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.35,
"pos": 97244015,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.206,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032900.6"
}
]
}