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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: 5-161895711-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=161895711&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 161895711,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000806.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "NM_001127644.2",
"protein_id": "NP_001121116.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393943.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127644.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000393943.10",
"protein_id": "ENSP00000377517.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127644.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393943.10"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000023897.10",
"protein_id": "ENSP00000023897.6",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000023897.10"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000428797.7",
"protein_id": "ENSP00000393097.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428797.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000437025.6",
"protein_id": "ENSP00000415441.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437025.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316Lys",
"transcript": "ENST00000638159.1",
"protein_id": "ENSP00000490360.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 471,
"cds_start": 947,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638159.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "NM_000806.5",
"protein_id": "NP_000797.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000806.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "NM_001127643.2",
"protein_id": "NP_001121115.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127643.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "NM_001127645.2",
"protein_id": "NP_001121117.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127645.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "NM_001127648.2",
"protein_id": "NP_001121120.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127648.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000635880.1",
"protein_id": "ENSP00000489738.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635880.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000636573.1",
"protein_id": "ENSP00000490320.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636573.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000637827.1",
"protein_id": "ENSP00000490804.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637827.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000638112.1",
"protein_id": "ENSP00000489839.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638112.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000958929.1",
"protein_id": "ENSP00000628988.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958929.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "ENST00000958930.1",
"protein_id": "ENSP00000628989.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.2503G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000635916.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.*751G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.706G>A",
"hgvs_p": null,
"transcript": "ENST00000636408.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.*676G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.*751G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"hgvs_c": "n.*676G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637044.1"
}
],
"gene_symbol": "GABRA1",
"gene_hgnc_id": 4075,
"dbsnp": "rs863225292",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9405725002288818,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.87,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9433,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.883,
"phylop100way_prediction": "Pathogenic",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000806.5",
"gene_symbol": "GABRA1",
"hgnc_id": 4075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys"
}
],
"clinvar_disease": " 19,Developmental and epileptic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Developmental and epileptic encephalopathy, 19",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}