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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: 3-62403183-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62403183&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 62403183,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001438347.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3780A>G",
"hgvs_p": "p.Gln1260Gln",
"transcript": "NM_003716.4",
"protein_id": "NP_003707.2",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383710.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003716.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3780A>G",
"hgvs_p": "p.Gln1260Gln",
"transcript": "ENST00000383710.9",
"protein_id": "ENSP00000373215.4",
"transcript_support_level": 1,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3780,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383710.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3753A>G",
"hgvs_p": "p.Gln1251Gln",
"transcript": "ENST00000612439.4",
"protein_id": "ENSP00000484365.1",
"transcript_support_level": 1,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3753,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612439.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3663A>G",
"hgvs_p": "p.Gln1221Gln",
"transcript": "ENST00000283269.13",
"protein_id": "ENSP00000283269.9",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3663,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283269.13"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3543A>G",
"hgvs_p": "p.Gln1181Gln",
"transcript": "ENST00000357948.7",
"protein_id": "ENSP00000350632.3",
"transcript_support_level": 1,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3543,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357948.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Gln251Gln",
"transcript": "ENST00000473635.5",
"protein_id": "ENSP00000418889.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 344,
"cds_start": 753,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473635.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3840A>G",
"hgvs_p": "p.Gln1280Gln",
"transcript": "NM_001438347.1",
"protein_id": "NP_001425276.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438347.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3828A>G",
"hgvs_p": "p.Gln1276Gln",
"transcript": "NM_001438348.1",
"protein_id": "NP_001425277.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3828,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438348.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3792A>G",
"hgvs_p": "p.Gln1264Gln",
"transcript": "NM_001438349.1",
"protein_id": "NP_001425278.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438349.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3759A>G",
"hgvs_p": "p.Gln1253Gln",
"transcript": "ENST00000951695.1",
"protein_id": "ENSP00000621754.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3759,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951695.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3753A>G",
"hgvs_p": "p.Gln1251Gln",
"transcript": "NM_001437891.1",
"protein_id": "NP_001424820.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3753,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437891.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3681A>G",
"hgvs_p": "p.Gln1227Gln",
"transcript": "NM_001438350.1",
"protein_id": "NP_001425279.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3681,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438350.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3681A>G",
"hgvs_p": "p.Gln1227Gln",
"transcript": "ENST00000951692.1",
"protein_id": "ENSP00000621751.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3681,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951692.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3678A>G",
"hgvs_p": "p.Gln1226Gln",
"transcript": "ENST00000951696.1",
"protein_id": "ENSP00000621755.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3678,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951696.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3663A>G",
"hgvs_p": "p.Gln1221Gln",
"transcript": "NM_183394.3",
"protein_id": "NP_899631.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3663,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183394.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3612A>G",
"hgvs_p": "p.Gln1204Gln",
"transcript": "NM_001438351.1",
"protein_id": "NP_001425280.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438351.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3612A>G",
"hgvs_p": "p.Gln1204Gln",
"transcript": "ENST00000951693.1",
"protein_id": "ENSP00000621752.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951693.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3609A>G",
"hgvs_p": "p.Gln1203Gln",
"transcript": "ENST00000951694.1",
"protein_id": "ENSP00000621753.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951694.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3594A>G",
"hgvs_p": "p.Gln1198Gln",
"transcript": "NM_001438352.1",
"protein_id": "NP_001425281.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3594,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438352.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3594A>G",
"hgvs_p": "p.Gln1198Gln",
"transcript": "ENST00000935174.1",
"protein_id": "ENSP00000605233.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3594,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935174.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3543A>G",
"hgvs_p": "p.Gln1181Gln",
"transcript": "NM_183393.3",
"protein_id": "NP_899630.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3543,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183393.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438347.1",
"gene_symbol": "CADPS",
"hgnc_id": 1426,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3840A>G",
"hgvs_p": "p.Gln1280Gln"
}
],
"clinvar_disease": "CADPS-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "CADPS-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}