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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: 17-78708252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78708252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78708252,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365040.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "NM_004762.6",
"protein_id": "NP_004753.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 398,
"cds_start": 115,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446868.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004762.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "ENST00000446868.8",
"protein_id": "ENSP00000389095.3",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 398,
"cds_start": 115,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004762.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446868.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Asp41Asn",
"transcript": "NM_001365040.2",
"protein_id": "NP_001351969.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 399,
"cds_start": 121,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365040.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Asp41Asn",
"transcript": "ENST00000589768.6",
"protein_id": "ENSP00000467052.2",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 399,
"cds_start": 121,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589768.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "NM_017456.4",
"protein_id": "NP_059430.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 397,
"cds_start": 115,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017456.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "ENST00000591455.5",
"protein_id": "ENSP00000465665.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 397,
"cds_start": 115,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591455.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "NM_001365037.2",
"protein_id": "NP_001351966.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 380,
"cds_start": 115,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365037.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "NM_001394677.1",
"protein_id": "NP_001381606.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 372,
"cds_start": 115,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394677.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "ENST00000883953.1",
"protein_id": "ENSP00000554012.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 334,
"cds_start": 115,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883953.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "ENST00000943665.1",
"protein_id": "ENSP00000613724.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 310,
"cds_start": 115,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943665.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Asp50Asn",
"transcript": "ENST00000586043.5",
"protein_id": "ENSP00000468433.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 193,
"cds_start": 148,
"cds_end": null,
"cds_length": 583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586043.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Asp39Asn",
"transcript": "ENST00000589296.5",
"protein_id": "ENSP00000465252.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 64,
"cds_start": 115,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589296.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Asp50Asn",
"transcript": "XM_047437076.1",
"protein_id": "XP_047293032.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 409,
"cds_start": 148,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437076.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Asp50Asn",
"transcript": "XM_047437077.1",
"protein_id": "XP_047293033.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 408,
"cds_start": 148,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437077.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Asp50Asn",
"transcript": "XM_011525475.4",
"protein_id": "XP_011523777.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 392,
"cds_start": 148,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525475.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Asp50Asn",
"transcript": "XM_047437078.1",
"protein_id": "XP_047293034.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 148,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "NM_001292018.4",
"protein_id": "NP_001278947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292018.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "NM_001292019.4",
"protein_id": "NP_001278948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292019.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "ENST00000585509.5",
"protein_id": "ENSP00000465940.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "ENST00000589297.5",
"protein_id": "ENSP00000466512.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589297.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "NM_001365038.2",
"protein_id": "NP_001351967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365038.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.-63G>A",
"hgvs_p": null,
"transcript": "NM_001365039.2",
"protein_id": "NP_001351968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365039.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001365040.2",
"gene_symbol": "CYTH1",
"hgnc_id": 9501,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Asp41Asn"
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000723159.1",
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"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
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}
],
"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
}