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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: 1-40417055-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40417055&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40417055,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022733.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "NM_022733.3",
"protein_id": "NP_073570.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 429,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372718.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022733.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "ENST00000372718.8",
"protein_id": "ENSP00000361803.3",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 429,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022733.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372718.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"transcript": "ENST00000614549.4",
"protein_id": "ENSP00000479285.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 424,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614549.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Arg",
"transcript": "ENST00000372708.5",
"protein_id": "ENSP00000361793.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 399,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372708.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"transcript": "NM_001198979.2",
"protein_id": "NP_001185908.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 424,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198979.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Arg",
"transcript": "ENST00000851553.1",
"protein_id": "ENSP00000521613.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 405,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851553.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Arg",
"transcript": "NM_001198978.2",
"protein_id": "NP_001185907.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 399,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198978.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"transcript": "ENST00000913386.1",
"protein_id": "ENSP00000583445.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 365,
"cds_start": 931,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913386.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "NM_001198980.1",
"protein_id": "NP_001185909.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198980.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "ENST00000539317.2",
"protein_id": "ENSP00000442835.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539317.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Arg",
"transcript": "ENST00000851555.1",
"protein_id": "ENSP00000521614.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 273,
"cds_start": 655,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851555.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Gly127Arg",
"transcript": "ENST00000913385.1",
"protein_id": "ENSP00000583444.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 379,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913385.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047428009.1",
"protein_id": "XP_047283965.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 413,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428009.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_011541960.3",
"protein_id": "XP_011540262.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541960.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_047428010.1",
"protein_id": "XP_047283966.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428010.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_047428011.1",
"protein_id": "XP_047283967.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428011.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_047428012.1",
"protein_id": "XP_047283968.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428012.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_047428013.1",
"protein_id": "XP_047283969.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428013.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"transcript": "XM_047428014.1",
"protein_id": "XP_047283970.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 403,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428014.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "XM_047428015.1",
"protein_id": "XP_047283971.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428015.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "XM_047428016.1",
"protein_id": "XP_047283972.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428016.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "XM_047428017.1",
"protein_id": "XP_047283973.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428017.1"
}
],
"gene_symbol": "SMAP2",
"gene_hgnc_id": 25082,
"dbsnp": "rs142006635",
"frequency_reference_population": 0.00048203566,
"hom_count_reference_population": 1,
"allele_count_reference_population": 777,
"gnomad_exomes_af": 0.000513103,
"gnomad_genomes_af": 0.000184007,
"gnomad_exomes_ac": 749,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41803982853889465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.5571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.092,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_022733.3",
"gene_symbol": "SMAP2",
"hgnc_id": 25082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg"
}
],
"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
}