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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: 4-1349792-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1349792&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1349792,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_020894.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "NM_020894.4",
"protein_id": "NP_065945.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 4773,
"mane_select": "ENST00000389851.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020894.4"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000389851.10",
"protein_id": "ENSP00000374501.4",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 4773,
"mane_select": "NM_020894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389851.10"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000507531.5",
"protein_id": "ENSP00000421741.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507531.5"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000511216.6",
"protein_id": "ENSP00000425130.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 12504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511216.6"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.694A>T",
"hgvs_p": "p.Lys232*",
"transcript": "ENST00000677428.1",
"protein_id": "ENSP00000504268.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 818,
"cds_start": 694,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677428.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "NM_001317934.2",
"protein_id": "NP_001304863.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317934.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "NM_001317935.2",
"protein_id": "NP_001304864.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317935.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000677286.1",
"protein_id": "ENSP00000503948.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677286.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000879149.1",
"protein_id": "ENSP00000549208.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879149.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000879150.1",
"protein_id": "ENSP00000549209.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879150.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000879151.1",
"protein_id": "ENSP00000549210.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879151.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934791.1",
"protein_id": "ENSP00000604850.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934791.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934794.1",
"protein_id": "ENSP00000604853.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934794.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000946603.1",
"protein_id": "ENSP00000616662.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946603.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934790.1",
"protein_id": "ENSP00000604849.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 673,
"cds_start": 367,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934790.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934792.1",
"protein_id": "ENSP00000604851.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 673,
"cds_start": 367,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934792.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934795.1",
"protein_id": "ENSP00000604854.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 673,
"cds_start": 367,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934795.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934789.1",
"protein_id": "ENSP00000604848.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 664,
"cds_start": 367,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934789.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "ENST00000934793.1",
"protein_id": "ENSP00000604852.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 545,
"cds_start": 367,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934793.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "XM_017008490.1",
"protein_id": "XP_016863979.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008490.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "XM_017008492.3",
"protein_id": "XP_016863981.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008492.3"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVSSA",
"gene_hgnc_id": 29304,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Lys123*",
"transcript": "XM_017008493.3",
"protein_id": "XP_016863982.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 709,
"cds_start": 367,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 4152,
"cdna_end": null,
"cdna_length": 8003,
"mane_select": null,
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}
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}