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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: 19-44234774-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44234774&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44234774,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_182490.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "NM_182490.3",
"protein_id": "NP_872296.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313040.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182490.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000313040.12",
"protein_id": "ENSP00000321049.6",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313040.12"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "NM_001289166.2",
"protein_id": "NP_001276095.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289166.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000621083.4",
"protein_id": "ENSP00000482749.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621083.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000876872.1",
"protein_id": "ENSP00000546931.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876872.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000876877.1",
"protein_id": "ENSP00000546936.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876877.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000876880.1",
"protein_id": "ENSP00000546939.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876880.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000876884.1",
"protein_id": "ENSP00000546943.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876884.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000937164.1",
"protein_id": "ENSP00000607223.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937164.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Ser115Cys",
"transcript": "ENST00000966994.1",
"protein_id": "ENSP00000637053.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 799,
"cds_start": 344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966994.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000876874.1",
"protein_id": "ENSP00000546933.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876874.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000876876.1",
"protein_id": "ENSP00000546935.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876876.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000876878.1",
"protein_id": "ENSP00000546937.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876878.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000876879.1",
"protein_id": "ENSP00000546938.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876879.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000876883.1",
"protein_id": "ENSP00000546942.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876883.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ser108Cys",
"transcript": "ENST00000966993.1",
"protein_id": "ENSP00000637052.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966993.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "NM_001289173.2",
"protein_id": "NP_001276102.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289173.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "ENST00000876873.1",
"protein_id": "ENSP00000546932.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876873.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "ENST00000876875.1",
"protein_id": "ENSP00000546934.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876875.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "ENST00000876881.1",
"protein_id": "ENSP00000546940.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876881.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "ENST00000876882.1",
"protein_id": "ENSP00000546941.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876882.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Ser87Cys",
"transcript": "ENST00000966992.1",
"protein_id": "ENSP00000637051.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 771,
"cds_start": 260,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}