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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: 19-49556340-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49556340&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49556340,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363649.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "NM_001270960.2",
"protein_id": "NP_001257889.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": "ENST00000596358.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270960.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000596358.6",
"protein_id": "ENSP00000470034.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": "NM_001270960.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596358.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Arg280Gly",
"transcript": "ENST00000874168.1",
"protein_id": "ENSP00000544227.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 310,
"cds_start": 838,
"cds_end": null,
"cds_length": 933,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874168.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "NM_001363649.3",
"protein_id": "NP_001350578.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363649.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "NM_001439222.1",
"protein_id": "NP_001426151.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439222.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "NM_001439223.1",
"protein_id": "NP_001426152.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439223.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000339093.7",
"protein_id": "ENSP00000343497.3",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339093.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000874162.1",
"protein_id": "ENSP00000544221.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874162.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000874167.1",
"protein_id": "ENSP00000544226.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874167.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000874171.1",
"protein_id": "ENSP00000544230.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874171.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000874172.1",
"protein_id": "ENSP00000544231.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874172.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000917074.1",
"protein_id": "ENSP00000587133.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917074.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000917075.1",
"protein_id": "ENSP00000587134.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917075.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000917076.1",
"protein_id": "ENSP00000587135.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917076.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000917077.1",
"protein_id": "ENSP00000587136.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 304,
"cds_start": 820,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917077.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "NM_001439224.1",
"protein_id": "NP_001426153.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439224.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "NM_015953.6",
"protein_id": "NP_057037.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015953.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000874163.1",
"protein_id": "ENSP00000544222.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874163.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000874164.1",
"protein_id": "ENSP00000544223.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874164.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000874165.1",
"protein_id": "ENSP00000544224.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874165.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000874166.1",
"protein_id": "ENSP00000544225.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874166.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSIP",
"gene_hgnc_id": 17946,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Arg271Gly",
"transcript": "ENST00000874169.1",
"protein_id": "ENSP00000544228.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 301,
"cds_start": 811,
"cds_end": null,
"cds_length": 906,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874169.1"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}