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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: 1-151365214-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151365214&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151365214,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001258289.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ser371Cys",
"transcript": "NM_003944.4",
"protein_id": "NP_003935.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 472,
"cds_start": 1112,
"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": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ser371Cys",
"transcript": "ENST00000368868.10",
"protein_id": "ENSP00000357861.5",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 472,
"cds_start": 1112,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Ser413Cys",
"transcript": "NM_001258289.2",
"protein_id": "NP_001245218.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 514,
"cds_start": 1238,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Ser413Cys",
"transcript": "ENST00000426705.6",
"protein_id": "ENSP00000397261.2",
"transcript_support_level": 2,
"aa_start": 413,
"aa_end": null,
"aa_length": 514,
"cds_start": 1238,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "ENST00000896531.1",
"protein_id": "ENSP00000566590.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 502,
"cds_start": 1202,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Ser396Cys",
"transcript": "ENST00000966380.1",
"protein_id": "ENSP00000636439.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 497,
"cds_start": 1187,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1175C>G",
"hgvs_p": "p.Ser392Cys",
"transcript": "ENST00000896525.1",
"protein_id": "ENSP00000566584.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 493,
"cds_start": 1175,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Ser391Cys",
"transcript": "ENST00000896524.1",
"protein_id": "ENSP00000566583.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 492,
"cds_start": 1172,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Ser379Cys",
"transcript": "ENST00000896523.1",
"protein_id": "ENSP00000566582.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 480,
"cds_start": 1136,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1079C>G",
"hgvs_p": "p.Ser360Cys",
"transcript": "ENST00000896522.1",
"protein_id": "ENSP00000566581.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 461,
"cds_start": 1079,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Ser350Cys",
"transcript": "ENST00000896529.1",
"protein_id": "ENSP00000566588.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 451,
"cds_start": 1049,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Ser344Cys",
"transcript": "ENST00000966379.1",
"protein_id": "ENSP00000636438.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 445,
"cds_start": 1031,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ser371Cys",
"transcript": "ENST00000966381.1",
"protein_id": "ENSP00000636440.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 439,
"cds_start": 1112,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ser329Cys",
"transcript": "ENST00000896533.1",
"protein_id": "ENSP00000566592.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 430,
"cds_start": 986,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.947C>G",
"hgvs_p": "p.Ser316Cys",
"transcript": "ENST00000966382.1",
"protein_id": "ENSP00000636441.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 417,
"cds_start": 947,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.926C>G",
"hgvs_p": "p.Ser309Cys",
"transcript": "NM_001258288.2",
"protein_id": "NP_001245217.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 926,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.926C>G",
"hgvs_p": "p.Ser309Cys",
"transcript": "ENST00000447402.7",
"protein_id": "ENSP00000413960.3",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 926,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Ser304Cys",
"transcript": "ENST00000896526.1",
"protein_id": "ENSP00000566585.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 405,
"cds_start": 911,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896526.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.854C>G",
"hgvs_p": "p.Ser285Cys",
"transcript": "ENST00000896532.1",
"protein_id": "ENSP00000566591.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 386,
"cds_start": 854,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Ser242Cys",
"transcript": "ENST00000935724.1",
"protein_id": "ENSP00000605783.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 343,
"cds_start": 725,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Ser242Cys",
"transcript": "ENST00000966378.1",
"protein_id": "ENSP00000636437.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 343,
"cds_start": 725,
"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": "ENST00000966378.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENBP1",
"gene_hgnc_id": 10719,
"hgvs_c": "c.692C>G",
"hgvs_p": "p.Ser231Cys",
"transcript": "ENST00000896530.1",
"protein_id": "ENSP00000566589.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 332,
"cds_start": 692,
"cds_end": null,
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],
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"clinvar_submissions_summary": "null",
"phenotype_combined": "SELENBP1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
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}