← 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: 5-161854158-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=161854158&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 161854158,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000393943.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001127644.2",
"protein_id": "NP_001121116.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": "ENST00000393943.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000393943.10",
"protein_id": "ENSP00000377517.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": "NM_001127644.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000023897.10",
"protein_id": "ENSP00000023897.6",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000428797.7",
"protein_id": "ENSP00000393097.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000437025.6",
"protein_id": "ENSP00000415441.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.120C>A",
"hgvs_p": "p.Ser40Arg",
"transcript": "ENST00000638159.1",
"protein_id": "ENSP00000490360.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 471,
"cds_start": 120,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_000806.5",
"protein_id": "NP_000797.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001127643.2",
"protein_id": "NP_001121115.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001127645.2",
"protein_id": "NP_001121117.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001127648.2",
"protein_id": "NP_001121120.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000635880.1",
"protein_id": "ENSP00000489738.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000636573.1",
"protein_id": "ENSP00000490320.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000637827.1",
"protein_id": "ENSP00000490804.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000638112.1",
"protein_id": "ENSP00000489839.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 456,
"cds_start": 75,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000634335.1",
"protein_id": "ENSP00000489434.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 284,
"cds_start": 75,
"cds_end": null,
"cds_length": 856,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000519621.2",
"protein_id": "ENSP00000430435.2",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 167,
"cds_start": 75,
"cds_end": null,
"cds_length": 504,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.138C>A",
"hgvs_p": "p.Ser46Arg",
"transcript": "ENST00000522651.6",
"protein_id": "ENSP00000430507.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 112,
"cds_start": 138,
"cds_end": null,
"cds_length": 339,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000521339.5",
"protein_id": "ENSP00000430895.2",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 84,
"cds_start": 75,
"cds_end": null,
"cds_length": 255,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000635096.1",
"protein_id": "ENSP00000489033.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 34,
"cds_start": 75,
"cds_end": null,
"cds_length": 105,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.850C>A",
"hgvs_p": null,
"transcript": "ENST00000635916.2",
"protein_id": null,
"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": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.137C>A",
"hgvs_p": null,
"transcript": "ENST00000636340.1",
"protein_id": "ENSP00000490002.1",
"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": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.75C>A",
"hgvs_p": null,
"transcript": "ENST00000637044.1",
"protein_id": "ENSP00000490684.1",
"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": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"dbsnp": "rs75423500",
"frequency_reference_population": 7.2133207e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.21332e-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": 0.22149720788002014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1424,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.865,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000339598158434972,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000393943.10",
"gene_symbol": "GABRA1",
"hgnc_id": 4075,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Ser25Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}