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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: 1-154454494-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154454494&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154454494,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382769.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.Asp358Val",
"transcript": "NM_000565.4",
"protein_id": "NP_000556.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 468,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368485.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000565.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.Asp358Val",
"transcript": "ENST00000368485.8",
"protein_id": "ENSP00000357470.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 468,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000565.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368485.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1066+4514A>T",
"hgvs_p": null,
"transcript": "ENST00000344086.8",
"protein_id": "ENSP00000340589.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344086.8"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1265A>T",
"hgvs_p": "p.Asp422Val",
"transcript": "ENST00000858510.1",
"protein_id": "ENSP00000528569.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 532,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858510.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1214A>T",
"hgvs_p": "p.Asp405Val",
"transcript": "ENST00000858512.1",
"protein_id": "ENSP00000528571.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 515,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858512.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Asp391Val",
"transcript": "NM_001382769.1",
"protein_id": "NP_001369698.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 501,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382769.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Asp391Val",
"transcript": "ENST00000858506.1",
"protein_id": "ENSP00000528565.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 501,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858506.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Asp389Val",
"transcript": "NM_001382770.1",
"protein_id": "NP_001369699.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 499,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382770.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Asp389Val",
"transcript": "ENST00000858505.1",
"protein_id": "ENSP00000528564.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 499,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858505.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000858509.1",
"protein_id": "ENSP00000528568.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 486,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858509.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1121A>T",
"hgvs_p": "p.Asp374Val",
"transcript": "NM_001382771.1",
"protein_id": "NP_001369700.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 484,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382771.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.Asp358Val",
"transcript": "ENST00000858507.1",
"protein_id": "ENSP00000528566.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 479,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858507.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1067A>T",
"hgvs_p": "p.Asp356Val",
"transcript": "NM_001382772.1",
"protein_id": "NP_001369701.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 466,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382772.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.956A>T",
"hgvs_p": "p.Asp319Val",
"transcript": "ENST00000858508.1",
"protein_id": "ENSP00000528567.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 429,
"cds_start": 956,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858508.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.713A>T",
"hgvs_p": "p.Asp238Val",
"transcript": "NM_001382774.1",
"protein_id": "NP_001369703.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 348,
"cds_start": 713,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382774.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.479A>T",
"hgvs_p": "p.Asp160Val",
"transcript": "ENST00000515190.1",
"protein_id": "ENSP00000423036.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 188,
"cds_start": 479,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515190.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1220A>T",
"hgvs_p": "p.Asp407Val",
"transcript": "XM_017001199.2",
"protein_id": "XP_016856688.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 517,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001199.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1157A>T",
"hgvs_p": "p.Asp386Val",
"transcript": "XM_047419648.1",
"protein_id": "XP_047275604.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 496,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419648.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1109A>T",
"hgvs_p": "p.Asp370Val",
"transcript": "XM_047419649.1",
"protein_id": "XP_047275605.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 480,
"cds_start": 1109,
"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": "XM_047419649.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1010A>T",
"hgvs_p": "p.Asp337Val",
"transcript": "XM_047419650.1",
"protein_id": "XP_047275606.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 447,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419650.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1078A>T",
"hgvs_p": "p.Ile360Phe",
"transcript": "XM_047419654.1",
"protein_id": "XP_047275610.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 387,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419654.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6R",
"gene_hgnc_id": 6019,
"hgvs_c": "c.1030A>T",
"hgvs_p": "p.Ile344Phe",
"transcript": "XM_047419656.1",
"protein_id": "XP_047275612.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 371,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419656.1"
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}