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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: 1-92262884-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92262884&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92262884,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_053274.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "NM_053274.3",
"protein_id": "NP_444504.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 594,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370360.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053274.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "ENST00000370360.8",
"protein_id": "ENSP00000359385.3",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 594,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053274.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370360.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*113A>T",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*113A>T",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "ENST00000931421.1",
"protein_id": "ENSP00000601480.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 616,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931421.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1488A>T",
"hgvs_p": "p.Lys496Asn",
"transcript": "ENST00000896612.1",
"protein_id": "ENSP00000566671.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 606,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896612.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "ENST00000896609.1",
"protein_id": "ENSP00000566668.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 594,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896609.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1410A>T",
"hgvs_p": "p.Lys470Asn",
"transcript": "NM_001319683.2",
"protein_id": "NP_001306612.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 580,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319683.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1362A>T",
"hgvs_p": "p.Lys454Asn",
"transcript": "ENST00000896610.1",
"protein_id": "ENSP00000566669.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 564,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896610.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1332A>T",
"hgvs_p": "p.Lys444Asn",
"transcript": "ENST00000931417.1",
"protein_id": "ENSP00000601476.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 554,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931417.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1326A>T",
"hgvs_p": "p.Lys442Asn",
"transcript": "ENST00000896611.1",
"protein_id": "ENSP00000566670.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 552,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896611.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1320A>T",
"hgvs_p": "p.Lys440Asn",
"transcript": "ENST00000931420.1",
"protein_id": "ENSP00000601479.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 550,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931420.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "ENST00000946567.1",
"protein_id": "ENSP00000616626.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 529,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946567.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Lys294Asn",
"transcript": "ENST00000931415.1",
"protein_id": "ENSP00000601474.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 404,
"cds_start": 882,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931415.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.675A>T",
"hgvs_p": "p.Lys225Asn",
"transcript": "ENST00000495852.6",
"protein_id": "ENSP00000469157.2",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 296,
"cds_start": 675,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495852.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.519A>T",
"hgvs_p": "p.Lys173Asn",
"transcript": "ENST00000896608.1",
"protein_id": "ENSP00000566667.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 283,
"cds_start": 519,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896608.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.714A>T",
"hgvs_p": "p.Lys238Asn",
"transcript": "ENST00000463560.1",
"protein_id": "ENSP00000468973.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 243,
"cds_start": 714,
"cds_end": null,
"cds_length": 733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463560.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1551A>T",
"hgvs_p": "p.Lys517Asn",
"transcript": "XM_017000137.2",
"protein_id": "XP_016855626.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 627,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000137.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1509A>T",
"hgvs_p": "p.Lys503Asn",
"transcript": "XM_017000138.2",
"protein_id": "XP_016855627.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 613,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000138.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1452A>T",
"hgvs_p": "p.Lys484Asn",
"transcript": "XM_011540546.3",
"protein_id": "XP_011538848.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 594,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540546.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1446A>T",
"hgvs_p": "p.Lys482Asn",
"transcript": "XM_017000139.2",
"protein_id": "XP_016855628.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 592,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000139.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Lys475Asn",
"transcript": "XM_017000140.2",
"protein_id": "XP_016855629.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 585,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}