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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: X-18897299-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18897299&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18897299,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001440805.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3146C>A",
"hgvs_p": "p.Ser1049*",
"transcript": "NM_000292.3",
"protein_id": "NP_000283.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": "ENST00000379942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000292.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3146C>A",
"hgvs_p": "p.Ser1049*",
"transcript": "ENST00000379942.5",
"protein_id": "ENSP00000369274.4",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": "NM_000292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379942.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3170C>A",
"hgvs_p": "p.Ser1057*",
"transcript": "NM_001440805.1",
"protein_id": "NP_001427734.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3352,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440805.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3170C>A",
"hgvs_p": "p.Ser1057*",
"transcript": "ENST00000897868.1",
"protein_id": "ENSP00000567927.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897868.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3131C>A",
"hgvs_p": "p.Ser1044*",
"transcript": "ENST00000954730.1",
"protein_id": "ENSP00000624789.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954730.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3146C>A",
"hgvs_p": "p.Ser1049*",
"transcript": "ENST00000897873.1",
"protein_id": "ENSP00000567932.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3265,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897873.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3092C>A",
"hgvs_p": "p.Ser1031*",
"transcript": "NM_001440800.1",
"protein_id": "NP_001427729.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440800.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3092C>A",
"hgvs_p": "p.Ser1031*",
"transcript": "ENST00000897869.1",
"protein_id": "ENSP00000567928.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3841,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897869.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3062C>A",
"hgvs_p": "p.Ser1021*",
"transcript": "NM_001440801.1",
"protein_id": "NP_001427730.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440801.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3062C>A",
"hgvs_p": "p.Ser1021*",
"transcript": "ENST00000897867.1",
"protein_id": "ENSP00000567926.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897867.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3056C>A",
"hgvs_p": "p.Ser1019*",
"transcript": "ENST00000954732.1",
"protein_id": "ENSP00000624791.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3056,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954732.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3047C>A",
"hgvs_p": "p.Ser1016*",
"transcript": "NM_001440802.1",
"protein_id": "NP_001427731.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440802.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3047C>A",
"hgvs_p": "p.Ser1016*",
"transcript": "ENST00000897870.1",
"protein_id": "ENSP00000567929.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897870.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3047C>A",
"hgvs_p": "p.Ser1016*",
"transcript": "ENST00000934920.1",
"protein_id": "ENSP00000604979.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934920.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3014C>A",
"hgvs_p": "p.Ser1005*",
"transcript": "ENST00000934921.1",
"protein_id": "ENSP00000604980.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934921.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3011C>A",
"hgvs_p": "p.Ser1004*",
"transcript": "ENST00000954728.1",
"protein_id": "ENSP00000624787.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954728.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3062C>A",
"hgvs_p": "p.Ser1021*",
"transcript": "ENST00000934923.1",
"protein_id": "ENSP00000604982.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934923.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2993C>A",
"hgvs_p": "p.Ser998*",
"transcript": "NM_001440803.1",
"protein_id": "NP_001427732.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440803.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2993C>A",
"hgvs_p": "p.Ser998*",
"transcript": "ENST00000954729.1",
"protein_id": "ENSP00000624788.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3418,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954729.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2963C>A",
"hgvs_p": "p.Ser988*",
"transcript": "NM_001440804.1",
"protein_id": "NP_001427733.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440804.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2963C>A",
"hgvs_p": "p.Ser988*",
"transcript": "ENST00000897871.1",
"protein_id": "ENSP00000567930.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897871.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.2954C>A",
"hgvs_p": "p.Ser985*",
"transcript": "ENST00000934922.1",
"protein_id": "ENSP00000604981.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1171,
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}
],
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}