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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: 12-66463002-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66463002&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 66463002,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359742.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "NM_001366722.1",
"protein_id": "NP_001353651.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1128,
"cds_start": 964,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000359742.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "ENST00000359742.9",
"protein_id": "ENSP00000352780.4",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 1128,
"cds_start": 964,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_001366722.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "ENST00000398016.7",
"protein_id": "ENSP00000381098.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 1076,
"cds_start": 964,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Ala266Ser",
"transcript": "ENST00000536215.5",
"protein_id": "ENSP00000446011.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 786,
"cds_start": 796,
"cds_end": null,
"cds_length": 2362,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Ala348Ser",
"transcript": "NM_001379345.1",
"protein_id": "NP_001366274.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"transcript": "ENST00000696989.1",
"protein_id": "ENSP00000513025.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "NM_001439322.1",
"protein_id": "NP_001426251.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 1114,
"cds_start": 967,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "NM_001379346.1",
"protein_id": "NP_001366275.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1113,
"cds_start": 964,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "NM_001439323.1",
"protein_id": "NP_001426252.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 1113,
"cds_start": 967,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Ala348Ser",
"transcript": "NM_001366724.1",
"protein_id": "NP_001353653.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Ala348Ser",
"transcript": "NM_001366723.1",
"protein_id": "NP_001353652.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Ala348Ser",
"transcript": "NM_001379347.1",
"protein_id": "NP_001366276.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Ala348Ser",
"transcript": "NM_001379348.1",
"protein_id": "NP_001366277.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "NM_001379349.1",
"protein_id": "NP_001366278.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 1077,
"cds_start": 967,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "NM_021150.4",
"protein_id": "NP_066973.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1076,
"cds_start": 964,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "NM_001178074.2",
"protein_id": "NP_001171545.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1061,
"cds_start": 964,
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"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "NM_001379351.1",
"protein_id": "NP_001366280.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 1061,
"cds_start": 967,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Ala322Ser",
"transcript": "ENST00000538211.5",
"protein_id": "ENSP00000446047.1",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 1055,
"cds_start": 964,
"cds_end": null,
"cds_length": 3169,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Ala136Ser",
"transcript": "ENST00000538164.5",
"protein_id": "ENSP00000439053.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 927,
"cds_start": 406,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Ala266Ser",
"transcript": "ENST00000540433.5",
"protein_id": "ENSP00000446024.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 796,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.424G>T",
"hgvs_p": "p.Ala142Ser",
"transcript": "ENST00000543172.5",
"protein_id": "ENSP00000443860.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 281,
"cds_start": 424,
"cds_end": null,
"cds_length": 847,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"transcript": "XM_017019098.2",
"protein_id": "XP_016874587.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1189G>T",
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}
],
"message": null
}