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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: 3-107728804-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=107728804&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 107728804,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001142568.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "NM_001142568.3",
"protein_id": "NP_001136040.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 941,
"cds_start": 445,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 9009,
"mane_select": "ENST00000325805.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000325805.13",
"protein_id": "ENSP00000319974.8",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 941,
"cds_start": 445,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 9009,
"mane_select": "NM_001142568.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000415149.6",
"protein_id": "ENSP00000408358.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 911,
"cds_start": 445,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000416476.6",
"protein_id": "ENSP00000403860.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 628,
"cds_start": 445,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "NM_020235.7",
"protein_id": "NP_064620.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 911,
"cds_start": 445,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 8919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000406780.5",
"protein_id": "ENSP00000385530.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 911,
"cds_start": 445,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000402543.5",
"protein_id": "ENSP00000385317.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 891,
"cds_start": 445,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "NM_001276286.2",
"protein_id": "NP_001263215.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 628,
"cds_start": 445,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 8000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000402163.6",
"protein_id": "ENSP00000385518.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 447,
"cds_start": 445,
"cds_end": null,
"cds_length": 1345,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000456419.5",
"protein_id": "ENSP00000413274.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 204,
"cds_start": 445,
"cds_end": null,
"cds_length": 616,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000427402.5",
"protein_id": "ENSP00000413320.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 192,
"cds_start": 445,
"cds_end": null,
"cds_length": 581,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000429270.1",
"protein_id": "ENSP00000414673.1",
"transcript_support_level": 4,
"aa_start": 149,
"aa_end": null,
"aa_length": 165,
"cds_start": 445,
"cds_end": null,
"cds_length": 498,
"cdna_start": 486,
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"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "ENST00000449213.5",
"protein_id": "ENSP00000407662.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 158,
"cds_start": 445,
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"cds_length": 477,
"cdna_start": 811,
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"cdna_length": 843,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Trp161Arg",
"transcript": "XM_024453644.2",
"protein_id": "XP_024309412.1",
"transcript_support_level": null,
"aa_start": 161,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Trp161Arg",
"transcript": "XM_024453645.2",
"protein_id": "XP_024309413.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 950,
"cds_start": 481,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_005247642.5",
"protein_id": "XP_005247699.1",
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"aa_start": 149,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_005247643.5",
"protein_id": "XP_005247700.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 941,
"cds_start": 445,
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"cdna_start": 703,
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"cdna_length": 8966,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_005247644.5",
"protein_id": "XP_005247701.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 941,
"cds_start": 445,
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"cdna_start": 863,
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"feature": null
},
{
"aa_ref": "W",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
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"transcript": "XM_011513000.3",
"protein_id": "XP_011511302.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "BBX",
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"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_011513001.3",
"protein_id": "XP_011511303.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_024453646.2",
"protein_id": "XP_024309414.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_024453647.2",
"protein_id": "XP_024309415.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 941,
"cds_start": 445,
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"cds_length": 2826,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 9069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_024453648.2",
"protein_id": "XP_024309416.1",
"transcript_support_level": null,
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],
"message": null
}