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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: 14-51655759-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=51655759&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 51655759,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000344768.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3763C>A",
"hgvs_p": null,
"transcript": "NM_001267046.2",
"protein_id": "NP_001253975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": "ENST00000344768.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3763C>A",
"hgvs_p": null,
"transcript": "ENST00000344768.10",
"protein_id": "ENSP00000343899.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": "NM_001267046.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "ENST00000356218.8",
"protein_id": "ENSP00000348550.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3763C>A",
"hgvs_p": null,
"transcript": "ENST00000395718.6",
"protein_id": "ENSP00000379068.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "NM_001042481.3",
"protein_id": "NP_001035946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3763C>A",
"hgvs_p": null,
"transcript": "NM_152330.4",
"protein_id": "NP_689543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3542C>A",
"hgvs_p": null,
"transcript": "ENST00000554778.1",
"protein_id": "ENSP00000452122.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": -4,
"cds_end": null,
"cds_length": 185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "n.509-33932C>A",
"hgvs_p": null,
"transcript": "ENST00000556137.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3542C>A",
"hgvs_p": null,
"transcript": "XM_006720029.2",
"protein_id": "XP_006720092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "XM_011536424.2",
"protein_id": "XP_011534726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "XM_024449473.2",
"protein_id": "XP_024305241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5006,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+2969C>A",
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"transcript": "XM_024449474.2",
"protein_id": "XP_024305242.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-222-2246C>A",
"hgvs_p": null,
"transcript": "XM_024449475.2",
"protein_id": "XP_024305243.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "XM_047430920.1",
"protein_id": "XP_047286876.1",
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-146-33932C>A",
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"transcript": "XM_047430921.1",
"protein_id": "XP_047286877.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 4,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "XM_047430922.1",
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},
{
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],
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-147+4246C>A",
"hgvs_p": null,
"transcript": "XM_047430923.1",
"protein_id": "XP_047286879.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3306C>A",
"hgvs_p": null,
"transcript": "XM_047430925.1",
"protein_id": "XP_047286881.1",
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-33932C>A",
"hgvs_p": null,
"transcript": "XM_047430926.1",
"protein_id": "XP_047286882.1",
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},
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],
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"intron_rank": 3,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-146-33932C>A",
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"protein_id": "XP_047286883.1",
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},
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-146-33932C>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+3542C>A",
"hgvs_p": null,
"transcript": "XM_006720030.2",
"protein_id": "XP_006720093.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 614,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+2969C>A",
"hgvs_p": null,
"transcript": "XM_024449476.2",
"protein_id": "XP_024305244.1",
"transcript_support_level": null,
"aa_start": null,
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}