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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: 20-488719-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=488719&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 488719,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000217244.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "NM_177559.3",
"protein_id": "NP_808227.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "ENST00000217244.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000217244.9",
"protein_id": "ENSP00000217244.3",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "NM_177559.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000400227.8",
"protein_id": "ENSP00000383086.3",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 385,
"cds_start": 783,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.375C>A",
"hgvs_p": "p.Tyr125*",
"transcript": "ENST00000349736.10",
"protein_id": "ENSP00000339247.6",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 255,
"cds_start": 375,
"cds_end": null,
"cds_length": 768,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "NM_001362770.2",
"protein_id": "NP_001349699.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "NM_001362771.2",
"protein_id": "NP_001349700.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "NM_001895.4",
"protein_id": "NP_001886.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 12867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000400217.7",
"protein_id": "ENSP00000383076.2",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000643660.1",
"protein_id": "ENSP00000495248.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000645623.1",
"protein_id": "ENSP00000495998.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000646305.1",
"protein_id": "ENSP00000495902.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000646561.1",
"protein_id": "ENSP00000496569.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 12912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000646814.1",
"protein_id": "ENSP00000495422.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000647348.1",
"protein_id": "ENSP00000495912.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 391,
"cds_start": 783,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000645234.1",
"protein_id": "ENSP00000494288.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 376,
"cds_start": 783,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.732C>A",
"hgvs_p": "p.Tyr244*",
"transcript": "ENST00000642689.1",
"protein_id": "ENSP00000495414.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 374,
"cds_start": 732,
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"cds_length": 1125,
"cdna_start": 902,
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"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.732C>A",
"hgvs_p": "p.Tyr244*",
"transcript": "ENST00000644710.1",
"protein_id": "ENSP00000493791.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 374,
"cds_start": 732,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.699C>A",
"hgvs_p": "p.Tyr233*",
"transcript": "ENST00000644885.1",
"protein_id": "ENSP00000496146.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 363,
"cds_start": 699,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Tyr224*",
"transcript": "ENST00000645260.1",
"protein_id": "ENSP00000493931.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 354,
"cds_start": 672,
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"cds_length": 1065,
"cdna_start": 837,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Tyr224*",
"transcript": "ENST00000647026.1",
"protein_id": "ENSP00000494370.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 354,
"cds_start": 672,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 842,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.375C>A",
"hgvs_p": "p.Tyr125*",
"transcript": "NM_177560.3",
"protein_id": "NP_808228.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 255,
"cds_start": 375,
"cds_end": null,
"cds_length": 768,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 12657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.375C>A",
"hgvs_p": "p.Tyr125*",
"transcript": "ENST00000644003.1",
"protein_id": "ENSP00000495387.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 255,
"cds_start": 375,
"cds_end": null,
"cds_length": 768,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.375C>A",
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}
],
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}