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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: 12-101642459-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101642459&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101642459,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001404675.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "NM_002465.4",
"protein_id": "NP_002456.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1171,
"cds_start": 706,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361466.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002465.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "ENST00000361466.7",
"protein_id": "ENSP00000354849.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 1171,
"cds_start": 706,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002465.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361466.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "ENST00000361685.6",
"protein_id": "ENSP00000354845.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 1148,
"cds_start": 706,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361685.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000545503.6",
"protein_id": "ENSP00000440034.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 1146,
"cds_start": 631,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545503.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Trp199Arg",
"transcript": "ENST00000541119.5",
"protein_id": "ENSP00000442847.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 1134,
"cds_start": 595,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541119.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.574T>C",
"hgvs_p": "p.Trp192Arg",
"transcript": "ENST00000536007.5",
"protein_id": "ENSP00000446128.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 1127,
"cds_start": 574,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536007.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000553190.5",
"protein_id": "ENSP00000447900.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 1123,
"cds_start": 631,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553190.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Trp185Arg",
"transcript": "ENST00000547405.5",
"protein_id": "ENSP00000448175.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 1120,
"cds_start": 553,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547405.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000551300.5",
"protein_id": "ENSP00000447116.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1024,
"cds_start": 334,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551300.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "ENST00000971973.1",
"protein_id": "ENSP00000642032.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1189,
"cds_start": 706,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971973.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "NM_001404675.1",
"protein_id": "NP_001391604.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1177,
"cds_start": 706,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404675.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Trp224Arg",
"transcript": "ENST00000971982.1",
"protein_id": "ENSP00000642041.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1177,
"cds_start": 670,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971982.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "NM_001254718.3",
"protein_id": "NP_001241647.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1173,
"cds_start": 631,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254718.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000452455.6",
"protein_id": "ENSP00000400908.2",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 1173,
"cds_start": 631,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452455.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "ENST00000971988.1",
"protein_id": "ENSP00000642047.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1167,
"cds_start": 706,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971988.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000971975.1",
"protein_id": "ENSP00000642034.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1164,
"cds_start": 631,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971975.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Trp224Arg",
"transcript": "ENST00000971976.1",
"protein_id": "ENSP00000642035.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1159,
"cds_start": 670,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971976.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Trp224Arg",
"transcript": "ENST00000971978.1",
"protein_id": "ENSP00000642037.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1159,
"cds_start": 670,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971978.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Trp223Arg",
"transcript": "ENST00000971979.1",
"protein_id": "ENSP00000642038.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1158,
"cds_start": 667,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971979.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.664T>C",
"hgvs_p": "p.Trp222Arg",
"transcript": "ENST00000971974.1",
"protein_id": "ENSP00000642033.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1157,
"cds_start": 664,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971974.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Trp224Arg",
"transcript": "ENST00000549145.5",
"protein_id": "ENSP00000447660.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1154,
"cds_start": 670,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549145.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Trp236Arg",
"transcript": "NM_206819.4",
"protein_id": "NP_996555.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1148,
"cds_start": 706,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
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