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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: 2-68807383-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=68807383&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 68807383,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409202.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "NM_001007231.3",
"protein_id": "NP_001007232.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 646,
"cds_start": 577,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "ENST00000409202.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "ENST00000409202.8",
"protein_id": "ENSP00000386911.3",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 646,
"cds_start": 577,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "NM_001007231.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000409220.5",
"protein_id": "ENSP00000386241.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 639,
"cds_start": 556,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "ENST00000409030.7",
"protein_id": "ENSP00000386863.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 638,
"cds_start": 553,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000497079.5",
"protein_id": "ENSP00000417139.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 458,
"cds_start": 556,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*402C>T",
"hgvs_p": null,
"transcript": "ENST00000473986.1",
"protein_id": "ENSP00000417425.1",
"transcript_support_level": 1,
"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": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "ENST00000488795.1",
"protein_id": "ENSP00000420427.1",
"transcript_support_level": 1,
"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": 990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*402C>T",
"hgvs_p": null,
"transcript": "ENST00000473986.1",
"protein_id": "ENSP00000417425.1",
"transcript_support_level": 1,
"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": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "XM_017005426.2",
"protein_id": "XP_016860915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "NM_001364819.1",
"protein_id": "NP_001351748.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 645,
"cds_start": 574,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_001166276.2",
"protein_id": "NP_001159748.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 639,
"cds_start": 556,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "NM_014882.3",
"protein_id": "NP_055697.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 638,
"cds_start": 553,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "NM_001364821.1",
"protein_id": "NP_001351750.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 620,
"cds_start": 499,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001364820.1",
"protein_id": "NP_001351749.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 607,
"cds_start": 460,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Trp",
"transcript": "NM_001166277.2",
"protein_id": "NP_001159749.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 606,
"cds_start": 457,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Trp",
"transcript": "ENST00000467265.5",
"protein_id": "ENSP00000420583.1",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 606,
"cds_start": 457,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.151C>T",
"hgvs_p": "p.Arg51Trp",
"transcript": "ENST00000497259.5",
"protein_id": "ENSP00000417818.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 504,
"cds_start": 151,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "XM_011533207.4",
"protein_id": "XP_011531509.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 620,
"cds_start": 499,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Trp",
"transcript": "XM_011533209.3",
"protein_id": "XP_011531511.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 528,
"cds_start": 223,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.795C>T",
"hgvs_p": null,
"transcript": "ENST00000456116.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"transcript": "ENST00000463483.5",
"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": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.744C>T",
"hgvs_p": null,
"transcript": "ENST00000485700.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "XM_017005426.2",
"protein_id": "XP_016860915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000409202.8",
"gene_symbol": "ARHGAP25",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}