← Back to variant description
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: 10-97229783-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97229783&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97229783,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032900.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Ser459Asn",
"transcript": "NM_032900.6",
"protein_id": "NP_116289.4",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 494,
"cds_start": 1376,
"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": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Ser459Asn",
"transcript": "ENST00000358531.9",
"protein_id": "ENSP00000351333.4",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 494,
"cds_start": 1376,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Ser430Asn",
"transcript": "ENST00000358308.7",
"protein_id": "ENSP00000351058.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 465,
"cds_start": 1289,
"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": 10,
"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.1376G>A",
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Ser490Asn",
"transcript": "ENST00000906074.1",
"protein_id": "ENSP00000576133.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 525,
"cds_start": 1469,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Ser466Asn",
"transcript": "ENST00000906073.1",
"protein_id": "ENSP00000576132.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 501,
"cds_start": 1397,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ser450Asn",
"transcript": "NM_001256423.2",
"protein_id": "NP_001243352.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 485,
"cds_start": 1349,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ser450Asn",
"transcript": "ENST00000371027.5",
"protein_id": "ENSP00000360066.1",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 485,
"cds_start": 1349,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Ser444Asn",
"transcript": "ENST00000911354.1",
"protein_id": "ENSP00000581413.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 479,
"cds_start": 1331,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Ser437Asn",
"transcript": "ENST00000911351.1",
"protein_id": "ENSP00000581410.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 472,
"cds_start": 1310,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Ser430Asn",
"transcript": "NM_001204300.2",
"protein_id": "NP_001191229.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 465,
"cds_start": 1289,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Ser425Asn",
"transcript": "ENST00000911353.1",
"protein_id": "ENSP00000581412.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 460,
"cds_start": 1274,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Ser409Asn",
"transcript": "ENST00000906075.1",
"protein_id": "ENSP00000576134.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 444,
"cds_start": 1226,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Ser393Asn",
"transcript": "ENST00000911355.1",
"protein_id": "ENSP00000581414.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1178,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Ser366Asn",
"transcript": "ENST00000911352.1",
"protein_id": "ENSP00000581411.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 401,
"cds_start": 1097,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Ser352Asn",
"transcript": "ENST00000911356.1",
"protein_id": "ENSP00000581415.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 387,
"cds_start": 1055,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.502G>A",
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.*565G>A",
"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": 10,
"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.1422G>A",
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"hgvs_c": "n.*565G>A",
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105378447",
"gene_hgnc_id": null,
"hgvs_c": "n.334-1373C>T",
"hgvs_p": null,
"transcript": "XR_946226.3",
"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": "XR_946226.3"
}
],
"gene_symbol": "ARHGAP19",
"gene_hgnc_id": 23724,
"dbsnp": "rs373943357",
"frequency_reference_population": 0.000042924275,
"hom_count_reference_population": 3,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.000046036,
"gnomad_genomes_af": 0.0000131492,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0715530514717102,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.476,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032900.6",
"gene_symbol": "ARHGAP19",
"hgnc_id": 23724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Ser459Asn"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000479633.2",
"gene_symbol": "ARHGAP19-SLIT1",
"hgnc_id": 48348,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1376G>A",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XR_946226.3",
"gene_symbol": "LOC105378447",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.334-1373C>T",
"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
}