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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: 3-62466394-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62466394&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 62466394,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000383710.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3496delA",
"hgvs_p": "p.Ile1166fs",
"transcript": "NM_003716.4",
"protein_id": "NP_003707.2",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3496,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "ENST00000383710.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3496delA",
"hgvs_p": "p.Ile1166fs",
"transcript": "ENST00000383710.9",
"protein_id": "ENSP00000373215.4",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3496,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "NM_003716.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3469delA",
"hgvs_p": "p.Ile1157fs",
"transcript": "ENST00000612439.4",
"protein_id": "ENSP00000484365.1",
"transcript_support_level": 1,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3469,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3829,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3379delA",
"hgvs_p": "p.Ile1127fs",
"transcript": "ENST00000283269.13",
"protein_id": "ENSP00000283269.9",
"transcript_support_level": 1,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3259delA",
"hgvs_p": "p.Ile1087fs",
"transcript": "ENST00000357948.7",
"protein_id": "ENSP00000350632.3",
"transcript_support_level": 1,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.469delA",
"hgvs_p": "p.Ile157fs",
"transcript": "ENST00000473635.5",
"protein_id": "ENSP00000418889.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 344,
"cds_start": 469,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.103delA",
"hgvs_p": "p.Ile35fs",
"transcript": "ENST00000613879.4",
"protein_id": "ENSP00000482556.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 222,
"cds_start": 103,
"cds_end": null,
"cds_length": 669,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3556delA",
"hgvs_p": "p.Ile1186fs",
"transcript": "NM_001438347.1",
"protein_id": "NP_001425276.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3556,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3544delA",
"hgvs_p": "p.Ile1182fs",
"transcript": "NM_001438348.1",
"protein_id": "NP_001425277.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 5555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3508delA",
"hgvs_p": "p.Ile1170fs",
"transcript": "NM_001438349.1",
"protein_id": "NP_001425278.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3508,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3895,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3469delA",
"hgvs_p": "p.Ile1157fs",
"transcript": "NM_001437891.1",
"protein_id": "NP_001424820.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3469,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3856,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3397delA",
"hgvs_p": "p.Ile1133fs",
"transcript": "NM_001438350.1",
"protein_id": "NP_001425279.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3379delA",
"hgvs_p": "p.Ile1127fs",
"transcript": "NM_183394.3",
"protein_id": "NP_899631.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3766,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3328delA",
"hgvs_p": "p.Ile1110fs",
"transcript": "NM_001438351.1",
"protein_id": "NP_001425280.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3328,
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"cds_length": 3894,
"cdna_start": 3715,
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"cdna_length": 5339,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3310delA",
"hgvs_p": "p.Ile1104fs",
"transcript": "NM_001438352.1",
"protein_id": "NP_001425281.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3697,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3259delA",
"hgvs_p": "p.Ile1087fs",
"transcript": "NM_183393.3",
"protein_id": "NP_899630.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3259,
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"cdna_start": 3646,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.229delA",
"hgvs_p": "p.Ile77fs",
"transcript": "ENST00000466621.2",
"protein_id": "ENSP00000417568.2",
"transcript_support_level": 4,
"aa_start": 77,
"aa_end": null,
"aa_length": 188,
"cds_start": 229,
"cds_end": null,
"cds_length": 569,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3742delA",
"hgvs_p": "p.Ile1248fs",
"transcript": "XM_047449093.1",
"protein_id": "XP_047305049.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3742,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3733delA",
"hgvs_p": "p.Ile1245fs",
"transcript": "XM_047449094.1",
"protein_id": "XP_047305050.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1432,
"cds_start": 3733,
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"cdna_start": 4120,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3730delA",
"hgvs_p": "p.Ile1244fs",
"transcript": "XM_011534177.3",
"protein_id": "XP_011532479.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3730,
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"cdna_start": 4117,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3727delA",
"hgvs_p": "p.Ile1243fs",
"transcript": "XM_047449095.1",
"protein_id": "XP_047305051.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3727,
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"cdna_start": 4114,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3721delA",
"hgvs_p": "p.Ile1241fs",
"transcript": "XM_047449096.1",
"protein_id": "XP_047305052.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3715delA",
"hgvs_p": "p.Ile1239fs",
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},
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}
],
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"dbsnp": "rs1553773676",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"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",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.656,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000383710.9",
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"hgnc_id": 1426,
"effects": [
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}