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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: 1-173952095-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173952095&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173952095,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367696.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "NM_172071.4",
"protein_id": "NP_742068.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 11451,
"mane_select": "ENST00000367696.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "ENST00000367696.7",
"protein_id": "ENSP00000356669.2",
"transcript_support_level": 5,
"aa_start": 805,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 11451,
"mane_select": "NM_172071.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "NM_001300850.1",
"protein_id": "NP_001287779.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 11129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "NM_001300851.1",
"protein_id": "NP_001287780.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "ENST00000367694.2",
"protein_id": "ENSP00000356667.2",
"transcript_support_level": 2,
"aa_start": 805,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "NM_001300852.1",
"protein_id": "NP_001287781.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 11099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447089.1",
"protein_id": "XP_047303045.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 11454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447090.1",
"protein_id": "XP_047303046.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 11288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447091.1",
"protein_id": "XP_047303047.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 11285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447092.1",
"protein_id": "XP_047303048.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2414,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 11427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447093.1",
"protein_id": "XP_047303049.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2414,
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"cds_length": 3378,
"cdna_start": 2660,
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"cdna_length": 11261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447094.1",
"protein_id": "XP_047303050.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2414,
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"cdna_start": 2826,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447095.1",
"protein_id": "XP_047303051.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2414,
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"cdna_start": 2660,
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"cdna_length": 11258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_005244921.4",
"protein_id": "XP_005244978.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_047447096.1",
"protein_id": "XP_047303052.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2351,
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"cdna_start": 2597,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_047447097.1",
"protein_id": "XP_047303053.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_047447101.1",
"protein_id": "XP_047303057.1",
"transcript_support_level": null,
"aa_start": 784,
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"cds_start": 2351,
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"cdna_start": 2763,
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"cdna_length": 11364,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_047447102.1",
"protein_id": "XP_047303058.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447103.1",
"protein_id": "XP_047303059.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447104.1",
"protein_id": "XP_047303060.1",
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},
{
"aa_ref": "N",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047447105.1",
"protein_id": "XP_047303061.1",
"transcript_support_level": null,
"aa_start": 805,
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"aa_length": 1075,
"cds_start": 2414,
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"cdna_start": 2826,
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"cdna_length": 11277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Asn784Ser",
"transcript": "XM_047447106.1",
"protein_id": "XP_047303062.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2351,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 11214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"dbsnp": "rs1478891202",
"frequency_reference_population": 0.000005009029,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000345836,
"gnomad_genomes_af": 0.0000198224,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22123149037361145,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.152,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367696.7",
"gene_symbol": "RC3H1",
"hgnc_id": 29434,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser"
}
],
"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
}