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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: 17-79047616-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79047616&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79047616,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030968.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "NM_030968.5",
"protein_id": "NP_112230.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579760.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030968.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000579760.6",
"protein_id": "ENSP00000463922.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030968.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579760.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000580474.1",
"protein_id": "ENSP00000463108.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580474.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000581774.5",
"protein_id": "ENSP00000462481.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581774.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "NM_153372.3",
"protein_id": "NP_699203.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153372.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "NM_198593.4",
"protein_id": "NP_940995.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198593.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000339142.6",
"protein_id": "ENSP00000340864.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339142.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000354124.7",
"protein_id": "ENSP00000343230.4",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354124.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000392445.6",
"protein_id": "ENSP00000376240.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392445.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000580454.5",
"protein_id": "ENSP00000462990.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580454.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000583904.5",
"protein_id": "ENSP00000463008.1",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583904.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885300.1",
"protein_id": "ENSP00000555359.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885300.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885301.1",
"protein_id": "ENSP00000555360.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885301.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885302.1",
"protein_id": "ENSP00000555361.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885302.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885303.1",
"protein_id": "ENSP00000555362.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885303.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885304.1",
"protein_id": "ENSP00000555363.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885304.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885305.1",
"protein_id": "ENSP00000555364.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885305.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885306.1",
"protein_id": "ENSP00000555365.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885306.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885307.1",
"protein_id": "ENSP00000555366.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885307.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000885308.1",
"protein_id": "ENSP00000555367.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885308.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000951174.1",
"protein_id": "ENSP00000621233.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951174.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn",
"transcript": "ENST00000951175.1",
"protein_id": "ENSP00000621234.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 281,
"cds_start": 374,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.0964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.388,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_030968.5",
"gene_symbol": "C1QTNF1",
"hgnc_id": 14324,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Thr125Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}