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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: 7-99758183-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99758183&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99758183,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_017460.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1461delA",
"hgvs_p": "p.Lys487fs",
"transcript": "NM_017460.6",
"protein_id": "NP_059488.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 503,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651514.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017460.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1461delA",
"hgvs_p": "p.Lys487fs",
"transcript": "ENST00000651514.1",
"protein_id": "ENSP00000498939.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 503,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017460.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651514.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1554delA",
"hgvs_p": "p.Lys518fs",
"transcript": "ENST00000336411.7",
"protein_id": "ENSP00000337915.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 534,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336411.7"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1551delA",
"hgvs_p": "p.Lys517fs",
"transcript": "ENST00000859201.1",
"protein_id": "ENSP00000529260.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 533,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859201.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1458delA",
"hgvs_p": "p.Lys486fs",
"transcript": "NM_001202855.3",
"protein_id": "NP_001189784.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 502,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202855.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1458delA",
"hgvs_p": "p.Lys486fs",
"transcript": "ENST00000859200.1",
"protein_id": "ENSP00000529259.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 502,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859200.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1455delA",
"hgvs_p": "p.Lys485fs",
"transcript": "ENST00000859202.1",
"protein_id": "ENSP00000529261.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 501,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859202.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1455delA",
"hgvs_p": "p.Lys485fs",
"transcript": "ENST00000859206.1",
"protein_id": "ENSP00000529265.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 501,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859206.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1452delA",
"hgvs_p": "p.Lys484fs",
"transcript": "ENST00000859213.1",
"protein_id": "ENSP00000529272.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 500,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859213.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1446delA",
"hgvs_p": "p.Lys482fs",
"transcript": "ENST00000859210.1",
"protein_id": "ENSP00000529269.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 498,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859210.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1440delA",
"hgvs_p": "p.Lys480fs",
"transcript": "ENST00000859209.1",
"protein_id": "ENSP00000529268.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 496,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859209.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1431delA",
"hgvs_p": "p.Lys477fs",
"transcript": "ENST00000859211.1",
"protein_id": "ENSP00000529270.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 493,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859211.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1425delA",
"hgvs_p": "p.Lys475fs",
"transcript": "ENST00000859208.1",
"protein_id": "ENSP00000529267.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 491,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859208.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1404delA",
"hgvs_p": "p.Lys468fs",
"transcript": "ENST00000859205.1",
"protein_id": "ENSP00000529264.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 484,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859205.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1314delA",
"hgvs_p": "p.Lys438fs",
"transcript": "ENST00000652018.1",
"protein_id": "ENSP00000498733.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 454,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652018.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1311delA",
"hgvs_p": "p.Lys437fs",
"transcript": "ENST00000859207.1",
"protein_id": "ENSP00000529266.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 453,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859207.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1269delA",
"hgvs_p": "p.Lys423fs",
"transcript": "ENST00000859203.1",
"protein_id": "ENSP00000529262.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 439,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859203.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1212delA",
"hgvs_p": "p.Lys404fs",
"transcript": "ENST00000859212.1",
"protein_id": "ENSP00000529271.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 420,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859212.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1209delA",
"hgvs_p": "p.Lys403fs",
"transcript": "ENST00000859215.1",
"protein_id": "ENSP00000529274.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 419,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859215.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1122delA",
"hgvs_p": "p.Lys374fs",
"transcript": "ENST00000859204.1",
"protein_id": "ENSP00000529263.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 390,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859204.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1011delA",
"hgvs_p": "p.Lys337fs",
"transcript": "ENST00000354593.6",
"protein_id": "ENSP00000346607.2",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 353,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354593.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"hgvs_c": "c.1417-16delA",
"hgvs_p": null,
"transcript": "ENST00000859214.1",
"protein_id": "ENSP00000529273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "CYP3A4",
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"hgvs_c": "n.896delA",
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"transcript": "ENST00000651162.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000651162.1"
}
],
"gene_symbol": "CYP3A4",
"gene_hgnc_id": 2637,
"dbsnp": "rs67666821",
"frequency_reference_population": 0.000014871068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000136825,
"gnomad_genomes_af": 0.0000262895,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.411,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017460.6",
"gene_symbol": "CYP3A4",
"hgnc_id": 2637,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1461delA",
"hgvs_p": "p.Lys487fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}