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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: 14-50130750-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50130750&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50130750,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006939.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3088A>G",
"hgvs_p": "p.Thr1030Ala",
"transcript": "NM_006939.4",
"protein_id": "NP_008870.2",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216373.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006939.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3088A>G",
"hgvs_p": "p.Thr1030Ala",
"transcript": "ENST00000216373.10",
"protein_id": "ENSP00000216373.5",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006939.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216373.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Thr997Ala",
"transcript": "ENST00000543680.5",
"protein_id": "ENSP00000445328.1",
"transcript_support_level": 1,
"aa_start": 997,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543680.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3229A>G",
"hgvs_p": "p.Thr1077Ala",
"transcript": "ENST00000934708.1",
"protein_id": "ENSP00000604767.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3229,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934708.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3142A>G",
"hgvs_p": "p.Thr1048Ala",
"transcript": "ENST00000953731.1",
"protein_id": "ENSP00000623790.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3142,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953731.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Thr997Ala",
"transcript": "NM_001411020.1",
"protein_id": "NP_001397949.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411020.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2977A>G",
"hgvs_p": "p.Thr993Ala",
"transcript": "ENST00000953732.1",
"protein_id": "ENSP00000623791.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953732.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Thr991Ala",
"transcript": "ENST00000953735.1",
"protein_id": "ENSP00000623794.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953735.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2944A>G",
"hgvs_p": "p.Thr982Ala",
"transcript": "ENST00000953733.1",
"protein_id": "ENSP00000623792.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1284,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953733.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2884A>G",
"hgvs_p": "p.Thr962Ala",
"transcript": "ENST00000953734.1",
"protein_id": "ENSP00000623793.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953734.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2665A>G",
"hgvs_p": "p.Thr889Ala",
"transcript": "ENST00000934709.1",
"protein_id": "ENSP00000604768.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934709.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3283A>G",
"hgvs_p": "p.Thr1095Ala",
"transcript": "XM_047431713.1",
"protein_id": "XP_047287669.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3283,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431713.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3229A>G",
"hgvs_p": "p.Thr1077Ala",
"transcript": "XM_047431714.1",
"protein_id": "XP_047287670.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3229,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431714.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3184A>G",
"hgvs_p": "p.Thr1062Ala",
"transcript": "XM_047431715.1",
"protein_id": "XP_047287671.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3184,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431715.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3142A>G",
"hgvs_p": "p.Thr1048Ala",
"transcript": "XM_047431716.1",
"protein_id": "XP_047287672.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3142,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431716.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3130A>G",
"hgvs_p": "p.Thr1044Ala",
"transcript": "XM_047431717.1",
"protein_id": "XP_047287673.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431717.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3103A>G",
"hgvs_p": "p.Thr1035Ala",
"transcript": "XM_047431718.1",
"protein_id": "XP_047287674.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3103,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431718.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3049A>G",
"hgvs_p": "p.Thr1017Ala",
"transcript": "XM_047431719.1",
"protein_id": "XP_047287675.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431719.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2962A>G",
"hgvs_p": "p.Thr988Ala",
"transcript": "XM_047431722.1",
"protein_id": "XP_047287678.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431722.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2962A>G",
"hgvs_p": "p.Thr988Ala",
"transcript": "XM_047431723.1",
"protein_id": "XP_047287679.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308262",
"gene_hgnc_id": null,
"hgvs_c": "n.-250A>G",
"hgvs_p": null,
"transcript": "ENST00000832887.1",
"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": "ENST00000832887.1"
}
],
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"dbsnp": "rs550680554",
"frequency_reference_population": 0.00012539662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 201,
"gnomad_exomes_af": 0.000124777,
"gnomad_genomes_af": 0.000131297,
"gnomad_exomes_ac": 181,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01085856556892395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0581,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.489,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006939.4",
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3088A>G",
"hgvs_p": "p.Thr1030Ala"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000832887.1",
"gene_symbol": "ENSG00000308262",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-250A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome,Noonan syndrome 9,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"phenotype_combined": "Noonan syndrome 9|not specified|Noonan syndrome|Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}