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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: 19-1085846-A-AGGACGGGGACGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1085846&ref=A&alt=AGGACGGGGACGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1085846,
"ref": "A",
"alt": "AGGACGGGGACGG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001258328.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3257_3268dupGGGACGGGGACG",
"hgvs_p": "p.Gly1086_Asp1089dup",
"transcript": "NM_012292.5",
"protein_id": "NP_036424.2",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3269,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313093.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012292.5"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3257_3268dupGGGACGGGGACG",
"hgvs_p": "p.Gly1086_Asp1089dup",
"transcript": "ENST00000313093.7",
"protein_id": "ENSP00000316772.2",
"transcript_support_level": 1,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3269,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012292.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313093.7"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3269_3280dupGGGACGGGGACG",
"hgvs_p": "p.Gly1090_Asp1093dup",
"transcript": "ENST00000586866.5",
"protein_id": "ENSP00000468615.1",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586866.5"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3341_3352dupGGGACGGGGACG",
"hgvs_p": "p.Gly1114_Asp1117dup",
"transcript": "ENST00000885660.1",
"protein_id": "ENSP00000555719.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885660.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3338_3349dupGGGACGGGGACG",
"hgvs_p": "p.Gly1113_Asp1116dup",
"transcript": "ENST00000590214.5",
"protein_id": "ENSP00000466401.1",
"transcript_support_level": 5,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590214.5"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3326_3337dupGGGACGGGGACG",
"hgvs_p": "p.Gly1109_Asp1112dup",
"transcript": "ENST00000964187.1",
"protein_id": "ENSP00000634246.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964187.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3305_3316dupGGGACGGGGACG",
"hgvs_p": "p.Gly1102_Asp1105dup",
"transcript": "NM_001258328.4",
"protein_id": "NP_001245257.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3317,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258328.4"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3305_3316dupGGGACGGGGACG",
"hgvs_p": "p.Gly1102_Asp1105dup",
"transcript": "ENST00000539243.6",
"protein_id": "ENSP00000439601.1",
"transcript_support_level": 2,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3317,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539243.6"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3269_3280dupGGGACGGGGACG",
"hgvs_p": "p.Gly1090_Asp1093dup",
"transcript": "NM_001321232.2",
"protein_id": "NP_001308161.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321232.2"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3260_3271dupGGGACGGGGACG",
"hgvs_p": "p.Gly1087_Asp1090dup",
"transcript": "ENST00000885658.1",
"protein_id": "ENSP00000555717.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885658.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3242_3253dupGGGACGGGGACG",
"hgvs_p": "p.Gly1081_Asp1084dup",
"transcript": "ENST00000885662.1",
"protein_id": "ENSP00000555721.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885662.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3212_3223dupGGGACGGGGACG",
"hgvs_p": "p.Gly1071_Asp1074dup",
"transcript": "ENST00000885661.1",
"protein_id": "ENSP00000555720.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3224,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885661.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3173_3184dupGGGACGGGGACG",
"hgvs_p": "p.Gly1058_Asp1061dup",
"transcript": "ENST00000885659.1",
"protein_id": "ENSP00000555718.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885659.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.2906_2917dupGGGACGGGGACG",
"hgvs_p": "p.Gly969_Asp972dup",
"transcript": "NM_001282335.3",
"protein_id": "NP_001269264.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282335.3"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.2906_2917dupGGGACGGGGACG",
"hgvs_p": "p.Gly969_Asp972dup",
"transcript": "ENST00000543365.5",
"protein_id": "ENSP00000438979.1",
"transcript_support_level": 2,
"aa_start": 973,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543365.5"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.2162_2173dupGGGACGGGGACG",
"hgvs_p": "p.Gly721_Asp724dup",
"transcript": "NM_001282334.2",
"protein_id": "NP_001269263.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 771,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282334.2"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.2162_2173dupGGGACGGGGACG",
"hgvs_p": "p.Gly721_Asp724dup",
"transcript": "ENST00000590577.2",
"protein_id": "ENSP00000468607.1",
"transcript_support_level": 2,
"aa_start": 725,
"aa_end": null,
"aa_length": 771,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590577.2"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3389_3400dupGGGACGGGGACG",
"hgvs_p": "p.Gly1130_Asp1133dup",
"transcript": "XM_047438545.1",
"protein_id": "XP_047294501.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438545.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3353_3364dupGGGACGGGGACG",
"hgvs_p": "p.Gly1118_Asp1121dup",
"transcript": "XM_011527858.1",
"protein_id": "XP_011526160.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527858.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3341_3352dupGGGACGGGGACG",
"hgvs_p": "p.Gly1114_Asp1117dup",
"transcript": "XM_047438546.1",
"protein_id": "XP_047294502.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438546.1"
},
{
"aa_ref": "E",
"aa_alt": "GDGDE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.3269_3280dupGGGACGGGGACG",
"hgvs_p": "p.Gly1090_Asp1093dup",
"transcript": "XM_047438547.1",
"protein_id": "XP_047294503.1",
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],
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"splice_score_selected": null,
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"acmg_score": -8,
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"acmg_by_gene": [
{
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"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
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"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001258328.4",
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"effects": [
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{
"score": -10,
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000938006.1",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}