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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: 19-10358002-CCCTCCCTGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10358002&ref=CCCTCCCTGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10358002,
"ref": "CCCTCCCTGG",
"alt": "C",
"effect": "stop_gained,disruptive_inframe_deletion,splice_region_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.1748_1756delCCAGGGAGG",
"hgvs_p": "p.Ser583_Glu586delinsTer",
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2599,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": 768,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2599,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2285_2293delCCAGGGAGG",
"hgvs_p": "p.Ser762_Glu765delinsTer",
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2285,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2219_2227delCCAGGGAGG",
"hgvs_p": "p.Ser740_Glu743delinsTer",
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2219,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2213_2221delCCAGGGAGG",
"hgvs_p": "p.Ser738_Glu741delinsTer",
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2599,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "ENST00000525976.6",
"protein_id": "ENSP00000434831.2",
"transcript_support_level": 3,
"aa_start": 768,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2177_2185delCCAGGGAGG",
"hgvs_p": "p.Ser726_Glu729delinsTer",
"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "NM_001385198.1",
"protein_id": "NP_001372127.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2117_2125delCCAGGGAGG",
"hgvs_p": "p.Ser706_Glu709delinsTer",
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2117,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2105_2113delCCAGGGAGG",
"hgvs_p": "p.Ser702_Glu705delinsTer",
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2303_2311delCCAGGGAGG",
"hgvs_p": "p.Ser768_Glu771delinsTer",
"transcript": "XM_047439304.1",
"protein_id": "XP_047295260.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2006_2014delCCAGGGAGG",
"hgvs_p": "p.Ser669_Glu672delinsTer",
"transcript": "XM_011528246.4",
"protein_id": "XP_011526548.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2006,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SREE",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
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"clinvar_submissions_summary": "null",
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}
],
"message": null
}