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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: 19-2102258-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2102258&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2102258,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001261826.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3563C>G",
"hgvs_p": "p.Ser1188Cys",
"transcript": "NM_001261826.3",
"protein_id": "NP_001248755.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": "ENST00000643116.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261826.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3563C>G",
"hgvs_p": "p.Ser1188Cys",
"transcript": "ENST00000643116.3",
"protein_id": "ENSP00000495274.2",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": "NM_001261826.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643116.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3377C>G",
"hgvs_p": "p.Ser1126Cys",
"transcript": "ENST00000345016.9",
"protein_id": "ENSP00000344055.4",
"transcript_support_level": 1,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4870,
"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.800C>G",
"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": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591650.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3644C>G",
"hgvs_p": "p.Ser1215Cys",
"transcript": "ENST00000920155.1",
"protein_id": "ENSP00000590214.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920155.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3569C>G",
"hgvs_p": "p.Ser1190Cys",
"transcript": "ENST00000920151.1",
"protein_id": "ENSP00000590210.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3569,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920151.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3563C>G",
"hgvs_p": "p.Ser1188Cys",
"transcript": "ENST00000964681.1",
"protein_id": "ENSP00000634740.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3779,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964681.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3536C>G",
"hgvs_p": "p.Ser1179Cys",
"transcript": "ENST00000920160.1",
"protein_id": "ENSP00000590219.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3536,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 4992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920160.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3527C>G",
"hgvs_p": "p.Ser1176Cys",
"transcript": "NM_001374799.1",
"protein_id": "NP_001361728.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374799.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3527C>G",
"hgvs_p": "p.Ser1176Cys",
"transcript": "ENST00000700387.1",
"protein_id": "ENSP00000514969.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700387.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3521C>G",
"hgvs_p": "p.Ser1174Cys",
"transcript": "ENST00000920154.1",
"protein_id": "ENSP00000590213.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3521,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920154.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3515C>G",
"hgvs_p": "p.Ser1172Cys",
"transcript": "ENST00000873634.1",
"protein_id": "ENSP00000543693.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3515,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873634.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3497C>G",
"hgvs_p": "p.Ser1166Cys",
"transcript": "ENST00000873633.1",
"protein_id": "ENSP00000543692.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873633.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3494C>G",
"hgvs_p": "p.Ser1165Cys",
"transcript": "ENST00000920159.1",
"protein_id": "ENSP00000590218.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920159.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3485C>G",
"hgvs_p": "p.Ser1162Cys",
"transcript": "ENST00000920152.1",
"protein_id": "ENSP00000590211.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3721,
"cdna_end": null,
"cdna_length": 4989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920152.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3455C>G",
"hgvs_p": "p.Ser1152Cys",
"transcript": "ENST00000873635.1",
"protein_id": "ENSP00000543694.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3455,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873635.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3455C>G",
"hgvs_p": "p.Ser1152Cys",
"transcript": "ENST00000920156.1",
"protein_id": "ENSP00000590215.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3455,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3670,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920156.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3446C>G",
"hgvs_p": "p.Ser1149Cys",
"transcript": "ENST00000920153.1",
"protein_id": "ENSP00000590212.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920153.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3434C>G",
"hgvs_p": "p.Ser1145Cys",
"transcript": "ENST00000920158.1",
"protein_id": "ENSP00000590217.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920158.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3419C>G",
"hgvs_p": "p.Ser1140Cys",
"transcript": "ENST00000920150.1",
"protein_id": "ENSP00000590209.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920150.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3377C>G",
"hgvs_p": "p.Ser1126Cys",
"transcript": "NM_003938.8",
"protein_id": "NP_003929.4",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003938.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.107C>G",
"hgvs_p": "p.Ser36Cys",
"transcript": "ENST00000920157.1",
"protein_id": "ENSP00000590216.1",
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"aa_start": 36,
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"splice_prediction_selected": "Benign",
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"acmg_score": 2,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001261826.3",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
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],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}