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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: 12-57478590-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57478590&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57478590,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032496.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 731,
"cds_start": 484,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 731,
"cds_start": 484,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 750,
"cds_start": 484,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 750,
"cds_start": 484,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "ENST00000550288.6",
"protein_id": "ENSP00000473445.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 657,
"cds_start": 484,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "NM_001080157.2",
"protein_id": "NP_001073626.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 640,
"cds_start": 484,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "ENST00000424809.6",
"protein_id": "ENSP00000394307.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 640,
"cds_start": 484,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000552249.1",
"protein_id": "ENSP00000448358.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 141,
"cds_start": 238,
"cds_end": null,
"cds_length": 426,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Gly210Arg",
"transcript": "XM_047429329.1",
"protein_id": "XP_047285285.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 798,
"cds_start": 628,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_047429330.1",
"protein_id": "XP_047285286.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 750,
"cds_start": 484,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_047429331.1",
"protein_id": "XP_047285287.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 750,
"cds_start": 484,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_011538656.3",
"protein_id": "XP_011536958.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 731,
"cds_start": 484,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_047429332.1",
"protein_id": "XP_047285288.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 731,
"cds_start": 484,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_047429333.1",
"protein_id": "XP_047285289.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 731,
"cds_start": 484,
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"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Gly210Arg",
"transcript": "XM_047429334.1",
"protein_id": "XP_047285290.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 688,
"cds_start": 628,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_047429335.1",
"protein_id": "XP_047285291.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 659,
"cds_start": 484,
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"cdna_start": 685,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "XM_011538659.3",
"protein_id": "XP_011536961.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 640,
"cds_start": 484,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Gly210Arg",
"transcript": "XM_047429338.1",
"protein_id": "XP_047285294.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 519,
"cds_start": 628,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Gly210Arg",
"transcript": "XM_047429339.1",
"protein_id": "XP_047285295.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 500,
"cds_start": 628,
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"cdna_start": 831,
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"mane_select": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "n.619G>A",
"hgvs_p": null,
"transcript": "ENST00000552420.5",
"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,
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"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.-210G>A",
"hgvs_p": null,
"transcript": "ENST00000552066.1",
"protein_id": "ENSP00000448424.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.405+1144C>T",
"hgvs_p": null,
"transcript": "ENST00000549133.1",
"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": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"dbsnp": "rs759603773",
"frequency_reference_population": 0.00007248666,
"hom_count_reference_population": 3,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000738773,
"gnomad_genomes_af": 0.0000591304,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02919715642929077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.174,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032496.4",
"gene_symbol": "ARHGAP9",
"hgnc_id": 14130,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000549133.1",
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "n.405+1144C>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
}