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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: X-136672085-GAGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136672085&ref=GAGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136672085,
"ref": "GAGT",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001440994.1",
"consequences": [
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2067_2069delACT",
"hgvs_p": "p.Leu690del",
"transcript": "NM_004840.3",
"protein_id": "NP_004831.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 776,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250617.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004840.3"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2067_2069delACT",
"hgvs_p": "p.Leu690del",
"transcript": "ENST00000250617.7",
"protein_id": "ENSP00000250617.6",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 776,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004840.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250617.7"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1605_1607delACT",
"hgvs_p": "p.Leu536del",
"transcript": "ENST00000370622.5",
"protein_id": "ENSP00000359656.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 622,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370622.5"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2148_2150delACT",
"hgvs_p": "p.Leu717del",
"transcript": "NM_001440994.1",
"protein_id": "NP_001427923.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 803,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440994.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2148_2150delACT",
"hgvs_p": "p.Leu717del",
"transcript": "ENST00000881407.1",
"protein_id": "ENSP00000551466.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 803,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881407.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2136_2138delACT",
"hgvs_p": "p.Leu713del",
"transcript": "ENST00000881408.1",
"protein_id": "ENSP00000551467.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 799,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881408.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2079_2081delACT",
"hgvs_p": "p.Leu694del",
"transcript": "NM_001440995.1",
"protein_id": "NP_001427924.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 780,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440995.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2079_2081delACT",
"hgvs_p": "p.Leu694del",
"transcript": "ENST00000881406.1",
"protein_id": "ENSP00000551465.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 780,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881406.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2046_2048delACT",
"hgvs_p": "p.Leu683del",
"transcript": "NM_001440996.1",
"protein_id": "NP_001427925.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 769,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440996.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2046_2048delACT",
"hgvs_p": "p.Leu683del",
"transcript": "ENST00000881405.1",
"protein_id": "ENSP00000551464.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 769,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881405.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2007_2009delACT",
"hgvs_p": "p.Leu670del",
"transcript": "ENST00000955722.1",
"protein_id": "ENSP00000625781.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 756,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955722.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1920_1922delACT",
"hgvs_p": "p.Leu641del",
"transcript": "NM_001440993.1",
"protein_id": "NP_001427922.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 727,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440993.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1920_1922delACT",
"hgvs_p": "p.Leu641del",
"transcript": "ENST00000881404.1",
"protein_id": "ENSP00000551463.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 727,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881404.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1896_1898delACT",
"hgvs_p": "p.Leu633del",
"transcript": "NM_001440997.1",
"protein_id": "NP_001427926.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 719,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440997.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1896_1898delACT",
"hgvs_p": "p.Leu633del",
"transcript": "NM_001440998.1",
"protein_id": "NP_001427927.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 719,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440998.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1605_1607delACT",
"hgvs_p": "p.Leu536del",
"transcript": "NM_001306177.2",
"protein_id": "NP_001293106.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 622,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306177.2"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1605_1607delACT",
"hgvs_p": "p.Leu536del",
"transcript": "ENST00000370620.5",
"protein_id": "ENSP00000359654.1",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 622,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370620.5"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.2160_2162delACT",
"hgvs_p": "p.Leu721del",
"transcript": "XM_017029975.3",
"protein_id": "XP_016885464.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 807,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029975.3"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1977_1979delACT",
"hgvs_p": "p.Leu660del",
"transcript": "XM_011531415.3",
"protein_id": "XP_011529717.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 746,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531415.3"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1908_1910delACT",
"hgvs_p": "p.Leu637del",
"transcript": "XM_047442673.1",
"protein_id": "XP_047298629.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 723,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442673.1"
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.1617_1619delACT",
"hgvs_p": "p.Leu540del",
"transcript": "XM_047442675.1",
"protein_id": "XP_047298631.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 626,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442675.1"
}
],
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"dbsnp": "rs770180249",
"frequency_reference_population": 0.000031448206,
"hom_count_reference_population": 9,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000328341,
"gnomad_genomes_af": 0.0000178705,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.196,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4_Supporting,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001440994.1",
"gene_symbol": "ARHGEF6",
"hgnc_id": 685,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.2148_2150delACT",
"hgvs_p": "p.Leu717del"
}
],
"clinvar_disease": "ARHGEF6-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|ARHGEF6-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}