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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: 17-7102177-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7102177&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7102177,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001181.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "NM_001201352.2",
"protein_id": "NP_001188281.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000691900.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201352.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000691900.1",
"protein_id": "ENSP00000510808.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201352.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691900.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Thr228Arg",
"transcript": "ENST00000355035.9",
"protein_id": "ENSP00000347140.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 311,
"cds_start": 683,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355035.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.626C>G",
"hgvs_p": "p.Thr209Arg",
"transcript": "ENST00000446679.6",
"protein_id": "ENSP00000405844.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 292,
"cds_start": 626,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446679.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.611C>G",
"hgvs_p": "p.Thr204Arg",
"transcript": "ENST00000254850.11",
"protein_id": "ENSP00000254850.7",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 287,
"cds_start": 611,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254850.11"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000870988.1",
"protein_id": "ENSP00000541047.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870988.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000870994.1",
"protein_id": "ENSP00000541053.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870994.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000871006.1",
"protein_id": "ENSP00000541065.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871006.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000871023.1",
"protein_id": "ENSP00000541082.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871023.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000871037.1",
"protein_id": "ENSP00000541096.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871037.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Thr235Arg",
"transcript": "ENST00000871049.1",
"protein_id": "ENSP00000541108.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 318,
"cds_start": 704,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871049.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Thr228Arg",
"transcript": "NM_001181.4",
"protein_id": "NP_001172.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 311,
"cds_start": 683,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001181.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Thr228Arg",
"transcript": "NM_080912.3",
"protein_id": "NP_550434.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 311,
"cds_start": 683,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080912.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000870987.1",
"protein_id": "ENSP00000541046.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870987.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000870991.1",
"protein_id": "ENSP00000541050.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870991.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000870992.1",
"protein_id": "ENSP00000541051.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870992.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871009.1",
"protein_id": "ENSP00000541068.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871009.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871014.1",
"protein_id": "ENSP00000541073.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871014.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871017.1",
"protein_id": "ENSP00000541076.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871017.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871022.1",
"protein_id": "ENSP00000541081.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871022.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871029.1",
"protein_id": "ENSP00000541088.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871029.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000871048.1",
"protein_id": "ENSP00000541107.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 668,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871048.1"
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}
],
"message": null
}