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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: 10-14897449-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14897449&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14897449,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354919.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys",
"transcript": "NM_001193424.2",
"protein_id": "NP_001180353.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 410,
"cds_start": 781,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": "ENST00000354919.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys",
"transcript": "ENST00000354919.11",
"protein_id": "ENSP00000346997.6",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 410,
"cds_start": 781,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": "NM_001193424.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "ENST00000313519.9",
"protein_id": "ENSP00000319208.5",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 350,
"cds_start": 601,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "n.*497C>T",
"hgvs_p": null,
"transcript": "ENST00000378331.5",
"protein_id": "ENSP00000367582.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.*1715G>A",
"hgvs_p": null,
"transcript": "ENST00000378289.8",
"protein_id": "ENSP00000367538.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "n.*497C>T",
"hgvs_p": null,
"transcript": "ENST00000378331.5",
"protein_id": "ENSP00000367582.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.309+472C>T",
"hgvs_p": null,
"transcript": "ENST00000378325.7",
"protein_id": "ENSP00000367576.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "NM_001193425.2",
"protein_id": "NP_001180354.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 350,
"cds_start": 601,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "NM_024670.4",
"protein_id": "NP_078946.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 350,
"cds_start": 601,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "ENST00000420416.1",
"protein_id": "ENSP00000392201.1",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 219,
"cds_start": 601,
"cds_end": null,
"cds_length": 662,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "XM_011519662.3",
"protein_id": "XP_011517964.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 350,
"cds_start": 601,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "XM_047425741.1",
"protein_id": "XP_047281697.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 350,
"cds_start": 601,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*3206G>A",
"hgvs_p": null,
"transcript": "ENST00000456122.2",
"protein_id": "ENSP00000413180.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "n.658C>T",
"hgvs_p": null,
"transcript": "NR_034181.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.*1801G>A",
"hgvs_p": null,
"transcript": "NM_001350965.2",
"protein_id": "NP_001337894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.*1801G>A",
"hgvs_p": null,
"transcript": "NM_001350966.2",
"protein_id": "NP_001337895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.*1801G>A",
"hgvs_p": null,
"transcript": "NM_001350967.2",
"protein_id": "NP_001337896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
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"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*3206G>A",
"hgvs_p": null,
"transcript": "ENST00000456122.2",
"protein_id": "ENSP00000413180.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.309+472C>T",
"hgvs_p": null,
"transcript": "NM_001193426.2",
"protein_id": "NP_001180355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2519,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.145-2090C>T",
"hgvs_p": null,
"transcript": "ENST00000358298.6",
"protein_id": "ENSP00000351046.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.129+472C>T",
"hgvs_p": null,
"transcript": "NM_001193427.2",
"protein_id": "NP_001180356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"hgvs_c": "c.129+472C>T",
"hgvs_p": null,
"transcript": "ENST00000433779.5",
"protein_id": "ENSP00000388968.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*115G>A",
"hgvs_p": null,
"transcript": "NR_146960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUV39H2",
"gene_hgnc_id": 17287,
"dbsnp": "rs375736366",
"frequency_reference_population": 0.000026067948,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000178197,
"gnomad_genomes_af": 0.000105184,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14260384440422058,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.282,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.458,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000354919.11",
"gene_symbol": "SUV39H2",
"hgnc_id": 17287,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000456122.2",
"gene_symbol": "DCLRE1C",
"hgnc_id": 17642,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*3206G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}