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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: 19-2102200-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2102200&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2102200,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001261826.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3621G>A",
"hgvs_p": "p.Glu1207Glu",
"transcript": "NM_001261826.3",
"protein_id": "NP_001248755.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643116.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261826.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3621G>A",
"hgvs_p": "p.Glu1207Glu",
"transcript": "ENST00000643116.3",
"protein_id": "ENSP00000495274.2",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001261826.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643116.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3435G>A",
"hgvs_p": "p.Glu1145Glu",
"transcript": "ENST00000345016.9",
"protein_id": "ENSP00000344055.4",
"transcript_support_level": 1,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345016.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "n.858G>A",
"hgvs_p": null,
"transcript": "ENST00000591650.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591650.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3702G>A",
"hgvs_p": "p.Glu1234Glu",
"transcript": "ENST00000920155.1",
"protein_id": "ENSP00000590214.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3702,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920155.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Glu1209Glu",
"transcript": "ENST00000920151.1",
"protein_id": "ENSP00000590210.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3627,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920151.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3621G>A",
"hgvs_p": "p.Glu1207Glu",
"transcript": "ENST00000964681.1",
"protein_id": "ENSP00000634740.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964681.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3594G>A",
"hgvs_p": "p.Glu1198Glu",
"transcript": "ENST00000920160.1",
"protein_id": "ENSP00000590219.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3594,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920160.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3585G>A",
"hgvs_p": "p.Glu1195Glu",
"transcript": "NM_001374799.1",
"protein_id": "NP_001361728.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3585,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374799.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3585G>A",
"hgvs_p": "p.Glu1195Glu",
"transcript": "ENST00000700387.1",
"protein_id": "ENSP00000514969.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3585,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700387.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Glu1193Glu",
"transcript": "ENST00000920154.1",
"protein_id": "ENSP00000590213.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920154.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3573G>A",
"hgvs_p": "p.Glu1191Glu",
"transcript": "ENST00000873634.1",
"protein_id": "ENSP00000543693.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3573,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873634.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3555G>A",
"hgvs_p": "p.Glu1185Glu",
"transcript": "ENST00000873633.1",
"protein_id": "ENSP00000543692.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3555,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873633.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3552G>A",
"hgvs_p": "p.Glu1184Glu",
"transcript": "ENST00000920159.1",
"protein_id": "ENSP00000590218.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3552,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920159.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Glu1181Glu",
"transcript": "ENST00000920152.1",
"protein_id": "ENSP00000590211.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3543,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920152.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3513G>A",
"hgvs_p": "p.Glu1171Glu",
"transcript": "ENST00000873635.1",
"protein_id": "ENSP00000543694.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3513,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873635.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3513G>A",
"hgvs_p": "p.Glu1171Glu",
"transcript": "ENST00000920156.1",
"protein_id": "ENSP00000590215.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3513,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920156.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3504G>A",
"hgvs_p": "p.Glu1168Glu",
"transcript": "ENST00000920153.1",
"protein_id": "ENSP00000590212.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3504,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920153.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Glu1164Glu",
"transcript": "ENST00000920158.1",
"protein_id": "ENSP00000590217.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3492,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920158.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3477G>A",
"hgvs_p": "p.Glu1159Glu",
"transcript": "ENST00000920150.1",
"protein_id": "ENSP00000590209.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920150.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.3435G>A",
"hgvs_p": "p.Glu1145Glu",
"transcript": "NM_003938.8",
"protein_id": "NP_003929.4",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003938.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3D1",
"gene_hgnc_id": 568,
"hgvs_c": "c.165G>A",
"hgvs_p": "p.Glu55Glu",
"transcript": "ENST00000920157.1",
"protein_id": "ENSP00000590216.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 63,
"cds_start": 165,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
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{
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{
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{
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{
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],
"gene_symbol": "AP3D1",
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"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001261826.3",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.3621G>A",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}