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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: 15-82659635-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82659635&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82659635,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001278512.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3231G>A",
"hgvs_p": "p.Gln1077Gln",
"transcript": "NM_001278512.2",
"protein_id": "NP_001265441.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535359.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278512.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3231G>A",
"hgvs_p": "p.Gln1077Gln",
"transcript": "ENST00000535359.6",
"protein_id": "ENSP00000440984.1",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278512.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535359.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3192G>A",
"hgvs_p": "p.Gln1064Gln",
"transcript": "ENST00000261722.8",
"protein_id": "ENSP00000261722.4",
"transcript_support_level": 1,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3192,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261722.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3078G>A",
"hgvs_p": "p.Gln1026Gln",
"transcript": "ENST00000535348.5",
"protein_id": "ENSP00000438721.1",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535348.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3320G>A",
"hgvs_p": null,
"transcript": "ENST00000537735.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000537735.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPEB1-AS1",
"gene_hgnc_id": 27523,
"hgvs_c": "n.1328+9489C>T",
"hgvs_p": null,
"transcript": "ENST00000560650.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000560650.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Ala1069Thr",
"transcript": "ENST00000652847.1",
"protein_id": "ENSP00000499785.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652847.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3303G>A",
"hgvs_p": "p.Gln1101Gln",
"transcript": "ENST00000642989.2",
"protein_id": "ENSP00000493485.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3303,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642989.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Gln1058Gln",
"transcript": "NM_004644.5",
"protein_id": "NP_004635.2",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004644.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Gln1058Gln",
"transcript": "ENST00000668990.2",
"protein_id": "ENSP00000499235.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668990.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3078G>A",
"hgvs_p": "p.Gln1026Gln",
"transcript": "NM_001278511.2",
"protein_id": "NP_001265440.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278511.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3003G>A",
"hgvs_p": "p.Gln1001Gln",
"transcript": "ENST00000669930.1",
"protein_id": "ENSP00000499671.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3003,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000669930.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.2082G>A",
"hgvs_p": "p.Gln694Gln",
"transcript": "ENST00000660624.1",
"protein_id": "ENSP00000499379.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 718,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660624.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gln121Gln",
"transcript": "NM_001348441.2",
"protein_id": "NP_001335370.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 145,
"cds_start": 363,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348441.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.*56G>A",
"hgvs_p": null,
"transcript": "ENST00000666973.1",
"protein_id": "ENSP00000499288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": null,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4118G>A",
"hgvs_p": null,
"transcript": "ENST00000535385.6",
"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": "retained_intron",
"feature": "ENST00000535385.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3818G>A",
"hgvs_p": null,
"transcript": "ENST00000543938.6",
"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": "ENST00000543938.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3020G>A",
"hgvs_p": null,
"transcript": "ENST00000657321.1",
"protein_id": "ENSP00000499716.1",
"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": "ENST00000657321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*752G>A",
"hgvs_p": null,
"transcript": "ENST00000661532.1",
"protein_id": "ENSP00000499583.1",
"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": "ENST00000661532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3316G>A",
"hgvs_p": null,
"transcript": "ENST00000663651.1",
"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": "ENST00000663651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3829G>A",
"hgvs_p": null,
"transcript": "ENST00000667758.1",
"protein_id": "ENSP00000499318.1",
"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": "ENST00000667758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*2972G>A",
"hgvs_p": null,
"transcript": "ENST00000668385.1",
"protein_id": "ENSP00000499544.1",
"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,
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"biotype": "nonsense_mediated_decay",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.4,
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"phylop100way_prediction": "Benign",
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{
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"pathogenic_score": 2,
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001278512.2",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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{
"score": -2,
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"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}