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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: 1-228409210-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228409210&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228409210,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016102.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "NM_016102.4",
"protein_id": "NP_057186.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366698.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016102.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000366698.7",
"protein_id": "ENSP00000355659.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016102.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366698.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000295033.7",
"protein_id": "ENSP00000295033.3",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295033.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000456946.6",
"protein_id": "ENSP00000403312.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 343,
"cds_start": 845,
"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": "ENST00000456946.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "NM_001024940.3",
"protein_id": "NP_001020111.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024940.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000366697.6",
"protein_id": "ENSP00000355658.2",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366697.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000882179.1",
"protein_id": "ENSP00000552238.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882179.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "ENST00000882180.1",
"protein_id": "ENSP00000552239.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882180.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "NM_001438323.1",
"protein_id": "NP_001425252.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 450,
"cds_start": 764,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438323.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "NM_001134855.2",
"protein_id": "NP_001128327.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 343,
"cds_start": 845,
"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": "NM_001134855.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "ENST00000479800.1",
"protein_id": "ENSP00000430468.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 266,
"cds_start": 764,
"cds_end": null,
"cds_length": 802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479800.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "XM_006711779.4",
"protein_id": "XP_006711842.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711779.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "XM_011544209.4",
"protein_id": "XP_011542511.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544209.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "XM_011544210.4",
"protein_id": "XP_011542512.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544210.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr",
"transcript": "XM_047422078.1",
"protein_id": "XP_047278034.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 477,
"cds_start": 845,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422078.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "XM_011544211.4",
"protein_id": "XP_011542513.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 450,
"cds_start": 764,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544211.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.*52G>C",
"hgvs_p": null,
"transcript": "XM_017001419.2",
"protein_id": "XP_016856908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001419.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.*52G>C",
"hgvs_p": null,
"transcript": "XM_047422091.1",
"protein_id": "XP_047278047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.*52G>C",
"hgvs_p": null,
"transcript": "XM_047422098.1",
"protein_id": "XP_047278054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM17",
"gene_hgnc_id": 13430,
"hgvs_c": "c.*52G>C",
"hgvs_p": null,
"transcript": "XM_047422103.1",
"protein_id": "XP_047278059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231563",
"gene_hgnc_id": null,
"hgvs_c": "n.186-387C>G",
"hgvs_p": null,
"transcript": "ENST00000436779.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000436779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231563",
"gene_hgnc_id": null,
"hgvs_c": "n.201+587C>G",
"hgvs_p": null,
"transcript": "ENST00000663818.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000663818.1"
},
{
"aa_ref": null,
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"alphamissense_score": 0.2161,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.495,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016102.4",
"gene_symbol": "TRIM17",
"hgnc_id": 13430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Arg282Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000663818.1",
"gene_symbol": "ENSG00000231563",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.201+587C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007066918.1",
"gene_symbol": "LOC124904537",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-61C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}