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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: 16-18866729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=18866729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 18866729,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015092.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "NM_015092.5",
"protein_id": "NP_055907.3",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3661,
"cds_start": 3242,
"cds_end": null,
"cds_length": 10986,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 16062,
"mane_select": "ENST00000446231.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015092.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "ENST00000446231.7",
"protein_id": "ENSP00000402515.3",
"transcript_support_level": 1,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3661,
"cds_start": 3242,
"cds_end": null,
"cds_length": 10986,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 16062,
"mane_select": "NM_015092.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446231.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.2912G>A",
"hgvs_p": "p.Cys971Tyr",
"transcript": "ENST00000565324.5",
"protein_id": "ENSP00000456259.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 3551,
"cds_start": 2912,
"cds_end": null,
"cds_length": 10656,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 12465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565324.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "ENST00000940395.1",
"protein_id": "ENSP00000610454.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3660,
"cds_start": 3242,
"cds_end": null,
"cds_length": 10983,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 16063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940395.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Cys511Tyr",
"transcript": "ENST00000563235.5",
"protein_id": "ENSP00000455861.2",
"transcript_support_level": 2,
"aa_start": 511,
"aa_end": null,
"aa_length": 852,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563235.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Cys25Tyr",
"transcript": "ENST00000566328.2",
"protein_id": "ENSP00000484278.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 84,
"cds_start": 74,
"cds_end": null,
"cds_length": 255,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566328.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "XM_005255182.4",
"protein_id": "XP_005255239.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3689,
"cds_start": 3242,
"cds_end": null,
"cds_length": 11070,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 16146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255182.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "XM_011545769.4",
"protein_id": "XP_011544071.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3688,
"cds_start": 3242,
"cds_end": null,
"cds_length": 11067,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 16143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545769.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Cys1055Tyr",
"transcript": "XM_005255183.5",
"protein_id": "XP_005255240.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 3663,
"cds_start": 3164,
"cds_end": null,
"cds_length": 10992,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 16204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255183.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Cys1055Tyr",
"transcript": "XM_017023066.3",
"protein_id": "XP_016878555.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 3663,
"cds_start": 3164,
"cds_end": null,
"cds_length": 10992,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 15954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023066.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Cys1055Tyr",
"transcript": "XM_047433792.1",
"protein_id": "XP_047289748.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 3663,
"cds_start": 3164,
"cds_end": null,
"cds_length": 10992,
"cdna_start": 7055,
"cdna_end": null,
"cdna_length": 19592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433792.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr",
"transcript": "XM_047433793.1",
"protein_id": "XP_047289749.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 3660,
"cds_start": 3242,
"cds_end": null,
"cds_length": 10983,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 16059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433793.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3086G>A",
"hgvs_p": "p.Cys1029Tyr",
"transcript": "XM_005255184.5",
"protein_id": "XP_005255241.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 3637,
"cds_start": 3086,
"cds_end": null,
"cds_length": 10914,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 15990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255184.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Cys1055Tyr",
"transcript": "XM_047433794.1",
"protein_id": "XP_047289750.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 3635,
"cds_start": 3164,
"cds_end": null,
"cds_length": 10908,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 15870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433794.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3008G>A",
"hgvs_p": "p.Cys1003Tyr",
"transcript": "XM_024450199.2",
"protein_id": "XP_024305967.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 3611,
"cds_start": 3008,
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"cdna_start": 6899,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_024450199.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3008G>A",
"hgvs_p": "p.Cys1003Tyr",
"transcript": "XM_047433795.1",
"protein_id": "XP_047289751.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 3611,
"cds_start": 3008,
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"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 15666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433795.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.3086G>A",
"hgvs_p": "p.Cys1029Tyr",
"transcript": "XM_047433796.1",
"protein_id": "XP_047289752.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 3609,
"cds_start": 3086,
"cds_end": null,
"cds_length": 10830,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 15906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433796.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Cys451Tyr",
"transcript": "XM_011545770.2",
"protein_id": "XP_011544072.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 3059,
"cds_start": 1352,
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"cdna_start": 1415,
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"biotype": "protein_coding",
"feature": "XM_011545770.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Cys451Tyr",
"transcript": "XM_017023067.2",
"protein_id": "XP_016878556.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
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"cds_start": 1352,
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"cdna_start": 1485,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017023067.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "n.*204G>A",
"hgvs_p": null,
"transcript": "ENST00000568038.1",
"protein_id": "ENSP00000458558.1",
"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": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568038.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "n.*204G>A",
"hgvs_p": null,
"transcript": "ENST00000568038.1",
"protein_id": "ENSP00000458558.1",
"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": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568038.1"
}
],
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"dbsnp": "rs1316427113",
"frequency_reference_population": 6.9209227e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.92092e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6531721949577332,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.333,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6414,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.354,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015092.5",
"gene_symbol": "SMG1",
"hgnc_id": 30045,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Cys1081Tyr"
}
],
"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
}