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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: 1-151365649-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151365649&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151365649,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001258289.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "NM_003944.4",
"protein_id": "NP_003935.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 472,
"cds_start": 958,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368868.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003944.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "ENST00000368868.10",
"protein_id": "ENSP00000357861.5",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 472,
"cds_start": 958,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003944.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368868.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"transcript": "NM_001258289.2",
"protein_id": "NP_001245218.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 514,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258289.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"transcript": "ENST00000426705.6",
"protein_id": "ENSP00000397261.2",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 514,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426705.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Arg350Cys",
"transcript": "ENST00000896531.1",
"protein_id": "ENSP00000566590.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 502,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896531.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "ENST00000966380.1",
"protein_id": "ENSP00000636439.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 497,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966380.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"transcript": "ENST00000896525.1",
"protein_id": "ENSP00000566584.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 493,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896525.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340Cys",
"transcript": "ENST00000896524.1",
"protein_id": "ENSP00000566583.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 492,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896524.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"transcript": "ENST00000896523.1",
"protein_id": "ENSP00000566582.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 480,
"cds_start": 982,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896523.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"transcript": "ENST00000896522.1",
"protein_id": "ENSP00000566581.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 461,
"cds_start": 925,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896522.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000896529.1",
"protein_id": "ENSP00000566588.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 451,
"cds_start": 895,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896529.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "ENST00000966379.1",
"protein_id": "ENSP00000636438.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 445,
"cds_start": 877,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966379.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "ENST00000966381.1",
"protein_id": "ENSP00000636440.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 439,
"cds_start": 958,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966381.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000896533.1",
"protein_id": "ENSP00000566592.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 430,
"cds_start": 832,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896533.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000966382.1",
"protein_id": "ENSP00000636441.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 417,
"cds_start": 793,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966382.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "NM_001258288.2",
"protein_id": "NP_001245217.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 410,
"cds_start": 772,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258288.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000447402.7",
"protein_id": "ENSP00000413960.3",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 410,
"cds_start": 772,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447402.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Arg234Cys",
"transcript": "ENST00000896532.1",
"protein_id": "ENSP00000566591.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 386,
"cds_start": 700,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896532.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Pro205Leu",
"transcript": "ENST00000935724.1",
"protein_id": "ENSP00000605783.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 343,
"cds_start": 614,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935724.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000896530.1",
"protein_id": "ENSP00000566589.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 332,
"cds_start": 538,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896530.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Arg173Cys",
"transcript": "ENST00000896528.1",
"protein_id": "ENSP00000566587.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 325,
"cds_start": 517,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896528.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000896527.1",
"protein_id": "ENSP00000566586.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
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{
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}