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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: 10-97235255-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97235255&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97235255,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032900.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1246A>G",
"hgvs_p": "p.Lys416Glu",
"transcript": "NM_032900.6",
"protein_id": "NP_116289.4",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 494,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358531.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032900.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1246A>G",
"hgvs_p": "p.Lys416Glu",
"transcript": "ENST00000358531.9",
"protein_id": "ENSP00000351333.4",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 494,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032900.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358531.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1159A>G",
"hgvs_p": "p.Lys387Glu",
"transcript": "ENST00000358308.7",
"protein_id": "ENSP00000351058.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 465,
"cds_start": 1159,
"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": "ENST00000358308.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19-SLIT1",
"gene_hgnc_id": 48348,
"hgvs_c": "n.1246A>G",
"hgvs_p": null,
"transcript": "ENST00000479633.2",
"protein_id": "ENSP00000473567.1",
"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": "ENST00000479633.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Lys447Glu",
"transcript": "ENST00000906074.1",
"protein_id": "ENSP00000576133.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 525,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906074.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Lys423Glu",
"transcript": "ENST00000906073.1",
"protein_id": "ENSP00000576132.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 501,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906073.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Lys407Glu",
"transcript": "NM_001256423.2",
"protein_id": "NP_001243352.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 485,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256423.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Lys407Glu",
"transcript": "ENST00000371027.5",
"protein_id": "ENSP00000360066.1",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 485,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371027.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Lys394Glu",
"transcript": "ENST00000911351.1",
"protein_id": "ENSP00000581410.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 472,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911351.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1159A>G",
"hgvs_p": "p.Lys387Glu",
"transcript": "NM_001204300.2",
"protein_id": "NP_001191229.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 465,
"cds_start": 1159,
"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_001204300.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Lys382Glu",
"transcript": "ENST00000911353.1",
"protein_id": "ENSP00000581412.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 460,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911353.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Lys366Glu",
"transcript": "ENST00000906075.1",
"protein_id": "ENSP00000576134.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 444,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906075.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "ENST00000911355.1",
"protein_id": "ENSP00000581414.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 428,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911355.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000911352.1",
"protein_id": "ENSP00000581411.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 401,
"cds_start": 967,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911352.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.925A>G",
"hgvs_p": "p.Lys309Glu",
"transcript": "ENST00000911356.1",
"protein_id": "ENSP00000581415.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 387,
"cds_start": 925,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1239+7A>G",
"hgvs_p": null,
"transcript": "ENST00000911354.1",
"protein_id": "ENSP00000581413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911354.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.372A>G",
"hgvs_p": null,
"transcript": "ENST00000487035.1",
"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": "pseudogene",
"feature": "ENST00000487035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.*435A>G",
"hgvs_p": null,
"transcript": "ENST00000492211.5",
"protein_id": "ENSP00000473327.1",
"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": "ENST00000492211.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19-SLIT1",
"gene_hgnc_id": 48348,
"hgvs_c": "n.1292A>G",
"hgvs_p": null,
"transcript": "NR_037909.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_037909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.*435A>G",
"hgvs_p": null,
"transcript": "ENST00000492211.5",
"protein_id": "ENSP00000473327.1",
"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": "ENST00000492211.5"
}
],
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"dbsnp": null,
"frequency_reference_population": 0.0000020523962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020524,
"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": 0.24601858854293823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.2636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.493,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_032900.6",
"gene_symbol": "ARHGAP19",
"hgnc_id": 23724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1246A>G",
"hgvs_p": "p.Lys416Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000479633.2",
"gene_symbol": "ARHGAP19-SLIT1",
"hgnc_id": 48348,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1246A>G",
"hgvs_p": null
}
],
"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
}