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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: 17-81868936-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81868936&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81868936,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000269321.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu",
"transcript": "NM_004309.6",
"protein_id": "NP_004300.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 555,
"cds_end": null,
"cds_length": 615,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": "ENST00000269321.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu",
"transcript": "ENST00000269321.12",
"protein_id": "ENSP00000269321.7",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 555,
"cds_end": null,
"cds_length": 615,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": "NM_004309.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu",
"transcript": "ENST00000580685.5",
"protein_id": "ENSP00000464205.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 555,
"cds_end": null,
"cds_length": 615,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.443C>G",
"hgvs_p": "p.Thr148Arg",
"transcript": "NM_001301242.2",
"protein_id": "NP_001288171.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 337,
"cds_start": 443,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Asp230Glu",
"transcript": "NM_001301243.2",
"protein_id": "NP_001288172.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 249,
"cds_start": 690,
"cds_end": null,
"cds_length": 750,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.443C>G",
"hgvs_p": "p.Thr148Arg",
"transcript": "ENST00000583868.5",
"protein_id": "ENSP00000462209.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 248,
"cds_start": 443,
"cds_end": null,
"cds_length": 748,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu",
"transcript": "NM_001185077.3",
"protein_id": "NP_001172006.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 555,
"cds_end": null,
"cds_length": 615,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu",
"transcript": "ENST00000541078.7",
"protein_id": "ENSP00000441348.2",
"transcript_support_level": 3,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 555,
"cds_end": null,
"cds_length": 615,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.423C>G",
"hgvs_p": "p.Asp141Glu",
"transcript": "NM_001185078.3",
"protein_id": "NP_001172007.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 160,
"cds_start": 423,
"cds_end": null,
"cds_length": 483,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.423C>G",
"hgvs_p": "p.Asp141Glu",
"transcript": "ENST00000400721.8",
"protein_id": "ENSP00000383556.4",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 160,
"cds_start": 423,
"cds_end": null,
"cds_length": 483,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Asp110Glu",
"transcript": "ENST00000581876.5",
"protein_id": "ENSP00000461956.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 129,
"cds_start": 330,
"cds_end": null,
"cds_length": 390,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Asp230Glu",
"transcript": "XM_011523574.2",
"protein_id": "XP_011521876.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 249,
"cds_start": 690,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.*199C>G",
"hgvs_p": null,
"transcript": "ENST00000580033.5",
"protein_id": "ENSP00000463530.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.757C>G",
"hgvs_p": null,
"transcript": "ENST00000582984.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.545C>G",
"hgvs_p": null,
"transcript": "NR_125441.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.*199C>G",
"hgvs_p": null,
"transcript": "ENST00000580033.5",
"protein_id": "ENSP00000463530.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.502+53C>G",
"hgvs_p": null,
"transcript": "NM_001301240.2",
"protein_id": "NP_001288169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.502+53C>G",
"hgvs_p": null,
"transcript": "NM_001301241.2",
"protein_id": "NP_001288170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.502+53C>G",
"hgvs_p": null,
"transcript": "ENST00000584461.5",
"protein_id": "ENSP00000463939.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "c.502+53C>G",
"hgvs_p": null,
"transcript": "ENST00000579121.5",
"protein_id": "ENSP00000462960.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.*199C>G",
"hgvs_p": null,
"transcript": "ENST00000578351.1",
"protein_id": "ENSP00000462323.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.*230C>G",
"hgvs_p": null,
"transcript": "ENST00000583111.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"hgvs_c": "n.*68C>G",
"hgvs_p": null,
"transcript": "ENST00000583791.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGDIA",
"gene_hgnc_id": 678,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9600856304168701,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.015,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000269321.12",
"gene_symbol": "ARHGDIA",
"hgnc_id": 678,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.555C>G",
"hgvs_p": "p.Asp185Glu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}