← Back to variant description
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: 11-62611329-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62611329&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62611329,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000394773.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "NM_153265.3",
"protein_id": "NP_694997.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 896,
"cds_start": 210,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": "ENST00000394773.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "ENST00000394773.7",
"protein_id": "ENSP00000378254.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 896,
"cds_start": 210,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": "NM_153265.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Pro71Pro",
"transcript": "NM_001300793.2",
"protein_id": "NP_001287722.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 918,
"cds_start": 213,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "NM_001300794.2",
"protein_id": "NP_001287723.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 917,
"cds_start": 210,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "ENST00000529309.5",
"protein_id": "ENSP00000434513.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 917,
"cds_start": 210,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Pro63Pro",
"transcript": "ENST00000394776.8",
"protein_id": "ENSP00000378256.4",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 910,
"cds_start": 189,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Pro71Pro",
"transcript": "NM_001411016.1",
"protein_id": "NP_001397945.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 897,
"cds_start": 213,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Pro71Pro",
"transcript": "ENST00000278845.8",
"protein_id": "ENSP00000278845.4",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 897,
"cds_start": 213,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.126A>G",
"hgvs_p": "p.Pro42Pro",
"transcript": "ENST00000494176.6",
"protein_id": "ENSP00000435064.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 889,
"cds_start": 126,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.126A>G",
"hgvs_p": "p.Pro42Pro",
"transcript": "ENST00000466671.5",
"protein_id": "ENSP00000435832.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 127,
"cds_start": 126,
"cds_end": null,
"cds_length": 384,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.123A>G",
"hgvs_p": "p.Pro41Pro",
"transcript": "ENST00000466886.5",
"protein_id": "ENSP00000433706.1",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 126,
"cds_start": 123,
"cds_end": null,
"cds_length": 382,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.123A>G",
"hgvs_p": "p.Pro41Pro",
"transcript": "ENST00000419857.1",
"protein_id": "ENSP00000411572.1",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 112,
"cds_start": 123,
"cds_end": null,
"cds_length": 340,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.363A>G",
"hgvs_p": "p.Pro121Pro",
"transcript": "XM_006718489.5",
"protein_id": "XP_006718552.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 968,
"cds_start": 363,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.360A>G",
"hgvs_p": "p.Pro120Pro",
"transcript": "XM_011544896.4",
"protein_id": "XP_011543198.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 967,
"cds_start": 360,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.363A>G",
"hgvs_p": "p.Pro121Pro",
"transcript": "XM_006718490.5",
"protein_id": "XP_006718553.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 947,
"cds_start": 363,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.360A>G",
"hgvs_p": "p.Pro120Pro",
"transcript": "XM_006718491.5",
"protein_id": "XP_006718554.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 946,
"cds_start": 360,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.363A>G",
"hgvs_p": "p.Pro121Pro",
"transcript": "XM_011544897.4",
"protein_id": "XP_011543199.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 916,
"cds_start": 363,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.126A>G",
"hgvs_p": "p.Pro42Pro",
"transcript": "XM_047426715.1",
"protein_id": "XP_047282671.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 868,
"cds_start": 126,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "XM_047426716.1",
"protein_id": "XP_047282672.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 865,
"cds_start": 210,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro",
"transcript": "XM_047426717.1",
"protein_id": "XP_047282673.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 844,
"cds_start": 210,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3110,
"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": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "n.123A>G",
"hgvs_p": null,
"transcript": "ENST00000494448.5",
"protein_id": "ENSP00000431752.1",
"transcript_support_level": 2,
"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": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.-101A>G",
"hgvs_p": null,
"transcript": "XM_017017481.3",
"protein_id": "XP_016872970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.-101A>G",
"hgvs_p": null,
"transcript": "XM_017017482.2",
"protein_id": "XP_016872971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"dbsnp": "rs11553576",
"frequency_reference_population": 0.33771497,
"hom_count_reference_population": 96310,
"allele_count_reference_population": 544612,
"gnomad_exomes_af": 0.342469,
"gnomad_genomes_af": 0.292067,
"gnomad_exomes_ac": 500191,
"gnomad_genomes_ac": 44421,
"gnomad_exomes_homalt": 89331,
"gnomad_genomes_homalt": 6979,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04899999871850014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.983,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394773.7",
"gene_symbol": "EML3",
"hgnc_id": 26666,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.210A>G",
"hgvs_p": "p.Pro70Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}