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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: 5-160051150-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160051150&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160051150,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003314.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "NM_003314.3",
"protein_id": "NP_003305.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231238.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003314.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000231238.10",
"protein_id": "ENSP00000231238.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003314.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231238.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "NM_001282500.2",
"protein_id": "NP_001269429.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282500.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000522793.5",
"protein_id": "ENSP00000429225.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522793.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000682719.1",
"protein_id": "ENSP00000507891.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682719.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000894227.1",
"protein_id": "ENSP00000564286.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894227.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000894228.1",
"protein_id": "ENSP00000564287.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894228.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000894229.1",
"protein_id": "ENSP00000564288.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894229.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000912911.1",
"protein_id": "ENSP00000582970.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912911.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000963824.1",
"protein_id": "ENSP00000633883.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 292,
"cds_start": 712,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963824.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.703G>C",
"hgvs_p": "p.Glu235Gln",
"transcript": "ENST00000912912.1",
"protein_id": "ENSP00000582971.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 289,
"cds_start": 703,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912912.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Glu135Gln",
"transcript": "ENST00000682131.1",
"protein_id": "ENSP00000506992.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 189,
"cds_start": 403,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682131.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.208G>C",
"hgvs_p": "p.Glu70Gln",
"transcript": "ENST00000518560.1",
"protein_id": "ENSP00000428613.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 163,
"cds_start": 208,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.*11G>C",
"hgvs_p": null,
"transcript": "ENST00000684018.1",
"protein_id": "ENSP00000506758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684018.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.690+1488G>C",
"hgvs_p": null,
"transcript": "ENST00000684137.1",
"protein_id": "ENSP00000507868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684137.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.541+7981G>C",
"hgvs_p": null,
"transcript": "ENST00000683219.1",
"protein_id": "ENSP00000507941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PWWP2A",
"gene_hgnc_id": 29406,
"hgvs_c": "c.1567-5891C>G",
"hgvs_p": null,
"transcript": "XM_011534424.4",
"protein_id": "XP_011532726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534424.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.494G>C",
"hgvs_p": null,
"transcript": "ENST00000520274.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000520274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.506G>C",
"hgvs_p": null,
"transcript": "ENST00000522073.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000522073.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.810G>C",
"hgvs_p": null,
"transcript": "ENST00000682151.1",
"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": "retained_intron",
"feature": "ENST00000682151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.*519G>C",
"hgvs_p": null,
"transcript": "ENST00000682172.1",
"protein_id": "ENSP00000508176.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682172.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.1343G>C",
"hgvs_p": null,
"transcript": "ENST00000682255.1",
"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": "retained_intron",
"feature": "ENST00000682255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.953,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 1,
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"BP4"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}