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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: 1-91329847-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91329847&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91329847,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001017975.6",
"consequences": [
{
"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": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "NM_001017975.6",
"protein_id": "NP_001017975.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370425.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017975.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "ENST00000370425.8",
"protein_id": "ENSP00000359454.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017975.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370425.8"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.101-5081C>T",
"hgvs_p": null,
"transcript": "ENST00000430465.1",
"protein_id": "ENSP00000387661.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430465.1"
},
{
"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": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540849.2",
"protein_id": "XP_011539151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540849.2"
},
{
"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": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540850.3",
"protein_id": "XP_011539152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540850.3"
},
{
"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": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540851.2",
"protein_id": "XP_011539153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540851.2"
},
{
"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": 39,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540852.3",
"protein_id": "XP_011539154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540852.3"
},
{
"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": 38,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2255-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000490.2",
"protein_id": "XP_016855979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": null,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000490.2"
},
{
"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": 37,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2210-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540855.3",
"protein_id": "XP_011539157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": null,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540855.3"
},
{
"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": 38,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000491.2",
"protein_id": "XP_016855980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1391,
"cds_start": null,
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"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000491.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_047447938.1",
"protein_id": "XP_047303894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 20,
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"gene_symbol": "HFM1",
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"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_047447940.1",
"protein_id": "XP_047303896.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1319,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447940.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.1913-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540857.2",
"protein_id": "XP_011539159.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1294,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011540857.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 14,
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"gene_symbol": "HFM1",
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"hgvs_c": "c.1373-5081C>T",
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"transcript": "XM_017000492.1",
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"biotype": "protein_coding",
"feature": "XM_017000492.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.1163-5081C>T",
"hgvs_p": null,
"transcript": "XM_011540859.3",
"protein_id": "XP_011539161.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1044,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011540859.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 20,
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"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_047447955.1",
"protein_id": "XP_047303911.1",
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"biotype": "protein_coding",
"feature": "XM_047447955.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_047447956.1",
"protein_id": "XP_047303912.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047447956.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.665-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000493.1",
"protein_id": "XP_016855982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017000493.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000494.2",
"protein_id": "XP_016855983.1",
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"biotype": "protein_coding",
"feature": "XM_017000494.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000495.2",
"protein_id": "XP_016855984.1",
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"biotype": "protein_coding",
"feature": "XM_017000495.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null,
"transcript": "XM_017000496.2",
"protein_id": "XP_016855985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000496.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEN1P1",
"gene_hgnc_id": 3651,
"hgvs_c": "n.91329847G>A",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HFM1",
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"transcript": "ENST00000462405.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462405.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 16,
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"gene_symbol": "HFM1",
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"hgvs_c": "n.2119-5081C>T",
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"transcript": "NR_165455.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165455.1"
}
],
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"dbsnp": "rs9868",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.761,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001017975.6",
"gene_symbol": "HFM1",
"hgnc_id": 20193,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2336-5081C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "",
"gene_symbol": "FEN1P1",
"hgnc_id": 3651,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.91329847G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}